HDSA Celebrates 40th Anniversary
Document Sample
H u nt in gton’s Dise ase Soci et y of A m e rica
November 2007
H un ti ngton ’s Disease Socie ty of A m e ri ca
HDSA Celebrates 40th Anniversary
INSIDE:
World Congress Meets in Germany
Huntington’s Disease Society of America Clinical Trial Update
505 Eighth Avenue, Suite 902
New York, New York 10018 Coping with Cognitive Decline
HDSA 212-242-1968 • 1-800-345-HDSA • www.hdsa.org
a message from C. Walt Johnston a message from Barbara T. Boyle
HDSA’s Chairman of the Board HDSA’s National Executive Director/CEO
I W
Dear HDSA Community:
am very pleased to be writing Every dollar given, large or small, has us closer to the ultimate goal. A cure elcome to a consisting of volunteers representing Group clinical trial site so our families
to you as the new Chairman of had a positive impact on HD research for HD! new issue of each of our stakeholder groups selected have incredible opportunities to be
the Board of the Huntington’s and we are now just beginning to realize The Marker revision of the guidelines that are used a part of the search for the missing
In the coming months, we will be
Disease Society of America. and appreciate the results of those magazine. We by the Social Security Administration pieces of the HD puzzle. Our Centers
working with our research partners
We wish to thank Charles investments. As one family member are very pleased to determine eligibility for disability of Excellence also offer comprehensive
and our HDSA Centers of Excellence
Dimmler III for his leadership and succinctly stated – it takes money to to report on our progress in the areas benefits. We will keep you apprised medical and social services to those
and chapters to develop ways that
dedication during his tenure and conduct research – and so we thank of research, care and advocacy. As we of progress on this important issue but affected by HD and their families, as
we can help to ensure a vital and
I look forward to a fruitful and all of our donors, along with the CHDI close our 40th Anniversary celebration, you can read more about the Grassroots well as outreach to local long term
energized participant base. An active
rewarding term as your new chair. organization who have believed, as we we have much to celebrate and Technical Advocacy Grant on page 21. care facilities, lay and professional
participation base will allow HDSA
It’s truly an honor! do, that the answers are within reach. commemorate. In June, the HDSA education, support groups and
to play an integral role in moving In the area of research, we continue to
convention was held in Oklahoma, more. Please support your Center of
At our board meeting on October 19, But as important as investing dollars compounds from the development move the pipeline for drug discovery
birthplace of Woody Guthrie and while Excellence by being a part of a walk,
the Board of Trustees was given an in research may be, so too is active stages to drug approval. forward at a rapid rate. Our HDSA
we were there, we had the opportunity hoop or any fund raising event held
extensive update by our researchers participation in one of the human clinical Coalition for the Cure investigators are
In the meantime, I thank you for your to meet several members of the Guthrie to benefit this vital care program.
on how the dollars that you contribute trials. CHDI is currently investigating working to identify viable targets for
continued support and look forward family including Mary Jo Edgmon, the
are being used to advance the pipeline several compounds in assays and CHDI, our partner in drug discovery. When Marjorie Guthrie first traveled
to seeing you at the HDSA national “baby” sister of Woody Guthrie and
for drug discovery. As Barbara notes animal models. In order to achieve In a recent update by CHDI’s Chief the country in search of HD families,
convention in June. several of Woody’s nieces and grand
in her letter to you, we heard some our goal of developing effective Scientific Officer, Dr. Robert Pacifici, she used the words “hopeless and
nieces. It was quite a festive time and
very encouraging news from all of treatments for HD, our clinicians will Sincerely yours, they are in the process of testing more helpless”. I am very pleased that those
we were delighted when the Guthrie
our partners and we are determined need hundreds of HD family members. than 50 novel compounds that may words are no longer true. Today the
family agreed to join us in New York
to find new and creative ways that Just as our family members worked soon yield one or more potential outlook for our families has never
for our Eleventh Annual Guthrie
we can help to fund and support this with our scientists to help discover C. Walt Johnston therapies for human clinical trials. With been more hopeful nor has the future
Awards Dinner that took place on
essential research. the gene in 1993, so too will you be Chairman of the Board your support, we can continue to fund held such promise. Now more than
October 18. You can read about our
called upon to help us test potentially this essential scientific pipeline. ever, the answers are within reach.
We are grateful to those of you who stellar dinner on page 27.
effective treatments that will move
have helped us to support this pipeline. In the area of care, our HDSA Center Sincerely yours,
We are also pleased to report on our
of Excellence program continues to
advances in advocacy. In June, HDSA
grow and to play an important part in
was awarded a $25,000 in kind grant
bringing potential new treatments to Barbara T. Boyle
from the National Health Council to
clinical trials. Every HDSA Center of National Executive Director/CEO
help us to build our grassroots program
Excellence is also a Huntington Study
across the country. The task team,
The Marker is an official publication of the The Marker, a periodical of the Huntington’s Disease HDSA, Inc., is a national not-for-profit organization founded November 2007
Huntington’s Disease Society of America, Inc. Society of America, Inc., is published twice annually. in 1986 to help individuals with Huntington’s Disease and
505 Eighth Avenue, Suite 902
New York, NY 10018, 212-242-1968
Its purpose is to provide information and opinion and
to relay items of interest to individuals with Huntington’s
their families.
The Society is a member of the National Health
TABLE OF CONTENTS
Disease and their families, health care professionals, and
C. Walt Johnston, Chair of the Board Council, the National Foundation for Brain Research, HDSA History . . . . . . . . . . . . . . . . . . . . . . . . . . . . .2 Progress Report . . . . . . . . . . . . . . . . . . . . . . . . . . 20
interested friends and supporters.
the International Huntington Organization, the National HDSA Research . . . . . . . . . . . . . . . . . . . . . .3-13, 25 Advocacy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 21
Barbara T. Boyle, National Executive Director/CEO
The appearance of advertising, or the mention of Organization for Rare Disorders, the National Voluntary
At Risk . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .14-15 Resource Directory . . . . . . . . . . . . . . . . . . . . .22-24
Debra Lovecky, Director of Education/Editor commercial products available for sale in articles Health Agencies, the Alliance of Genetic Support Groups
Feature Story: Hospice . . . . . . . . . . . . . . . . . . . . 16 HDSA 40th Anniversary . . . . . . . . . . . . . . . . .26-27
published in this publication, is not an HDSA, Inc., and the Independent Sector.
Karen Tarapata, Editor
guarantee or endorsement of the product or the Feature Story: Tai Chi . . . . . . . . . . . . . . . . . . . . . . .17 Ways to Give . . . . . . . . . . . . . . . . . . . . . . . . . .28-30
Design: The Byne Group The Huntington’s Disease Society of America meets all nine
claims made for the product by the manufacturer. Caregivers Link . . . . . . . . . . . . . . . . . . . . . . . . .18-19
Jennifer Zapf, Art Director standards of the National Charities Information Bureau.
Statements and opinions expressed in articles are
Melissa Behrens, Designer not necessarily those of HDSA, Inc. ©2007 Huntington’s Disease Society of America
Volume 9, #1
history
HDSA History research
HDSA Research
HDSA Celebrates HDSA Pipeline Update
40th Anniversary (1967-2007)
W H
oody Guthrie was a HD. The recommendations that resulted DSA has an ultimate goal of and to then screen large collections are acceptable, the drug may then be
storyteller who used music from that 1977 report have served as the developing treatments effective (hundreds of thousands to millions) of approved by the Food and Drug Admin-
to tell his stories. His work cornerstone of HDSA’s commitment to in preventing or delaying the chemical compounds to identify those istration for treatment of the disorder.
ranged from social commentaries about the care and cure of HD. onset and progression of the disorder. that alter the results measured in the
The development of effective drugs
the working conditions of migrant workers In order to expedite the movement of assay. Promising chemical compounds
In 1983, HDSA Coalition for the Cure through the pipeline is a long and
and the urban poor to ballads and basic research into effective treatments, are then retested in several different ways
investigator, Dr. Jim Gusella, found the expensive process, with most or all of
children’s songs. HDSA has developed a “pipeline” of and are subjected to slight modifications
very first marker for the disease and, the initial list of chemical compounds
drug discovery that takes a systematic, to choose a more potent structure. Many
In 1967, Woody Guthrie, lost his battle after a ten year search that involved falling away as they are subjected to
comprehensive approach to maximizing compounds are eliminated during this
with HD. He was just 55 years old. During collaboration among the top HD more and more stringent tests. The
the opportunities to achieve our goal – an testing and retesting. The compounds
the more than 15 years that the disease researchers worldwide, the gene choice of targets at the beginning of the
Marjorie Guthrie effective treatment for HD. that survive are further optimized and
affected him, he struggled to continue to was located on the short arm of process is crucial to the efficient use of
then tested in animal models for possible
communicate his conviction that every chromosome 4. At the beginning of each drug discovery available funds. Rigorous scientific
services to those affected by HD and toxicity or other reasons that might
man, woman and child has within them effort, a biological process is identified evidence supporting the choice of a
Since that time, research has progressed their families while a toll free helpline prevent them from being used as a
the power to make a difference. as possibly essential to some critical aspect target comes from the basic research we
rapidly and, in 2004, HDSA formed a and extensive national web site (www. drug in people. Many compounds are
of the disease. This biological process, or support, which provides a firm foundation
Soon after his death, his widow Marjorie pipeline for drug discovery that begins in hdsa.org) help to provide access to again discarded at this juncture. In the
the protein at the center of it, is referred for HDSA’s entire drug discovery pipeline.
vowed to do something about this silent the laboratory with basic science (HDSA services. HDSA chapters, affiliates, HDSA Pipeline, these steps are carried
to as a “target” for drug discovery. In our In this issue, we feature an update on
killer. At the time, little was known about Grants & Fellowship program and the regions, social workers, and support out by our partner, CHDI, Inc.
pipeline, targets are determined through the basic research conducted by Teams
the disease. Marjorie placed a small ad prestigious HDSA Coalition for the groups work in tandem with the Centers
basic research investigations funded by Eventually, chemical compounds that 3, 4 and 5 of the HDSA Coalition for
in a New York City newspaper and Cure) progresses to applied/translational of Excellence to increase awareness
HDSA and performed by the Coalition survive all the tests become candidates the Cure, a progress report on clinical
slowly gathered a determined handful research (HDSA partner CHDI) and then about HD and raise funds for research,
for the Cure and our HDSA Grants and for testing in humans. This requires a trials, notes on unique research taking
of volunteers and HD families from moves to the patient’s bedside in the education and family services.
Fellows Program. three-phase clinical trial process that, place at our HDSA Centers of Excellence
across the United States. From that first form of human clinical trials that test
Marjorie Guthrie died just a few months in our pipeline, is carried out at sites that and an update on the trials being
moment, when Marjorie Guthrie reached the most promising compounds often at Once a target has been identified, the
before the marker was found in 1983. include HDSA Centers of Excellence. If conducted by Huntington’s Disease
out to other HD families, a worldwide HDSA Centers of Excellence. Today the next step is to devise an assay that permits
But in the 16 years that she worked to the drug is found effective after all three Drug Works (HDDW). ■
movement began that would change the question our families ask is not “if” there reproducible measurement of the target
bring this disease out of the family closet, phases of testing, and any side effects
lives of those living with HD and bring will be a treatment or cure, but “when.”
she brought empathy and hope – a hope
hope to families.
In the area of care, HDSA has created for a future free of HD – to those affected
Dynamic and compelling, Marjorie a national network of resources and by this devastating disease. Her work
The HDSA Research Pipeline
Guthrie convinced then President Jimmy referrals that are unmatched by any resulted in what is today the Huntington’s
Carter to form a Presidential Commission other HD organization. HDSA Centers Disease Society of America. And so we
Step 1 Step 2-4 Step 5-7
to study neurological diseases, including of Excellence provide medical and social pay tribute to Marjorie Guthrie in this
Basic Research Applied Research Phase 1, 2, 3 Clinical Trials
issue for her unflagging efforts to educate,
empower and encourage those affected Molecular FDA Approved
by HD, their families and the many Target Drug
SAVE THE DATE researchers around the world. ■
HDSA Annual Convention • June 6-8, 2008 HDSA Coalition HDSA Partnership HDSA Partnership for Clinical Trials
for the Cure with CHDI
Omni William Penn Hotel • Pittsburgh, PA HDSA Centers of Excellence
HDSA Grants and
Go to www.hdsa.org for more information after January 1, 2008. Fellows Program
2 WINTER 2007 | HDSA.ORG Huntington’s Disease Society of Amer ica
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H u nti ng to n’s D i sea se S o c i ety o f A m er i c a
research
HDSA Research research
HDSA Research
5th Annual Phyllis E. Dake
whether other cellular changes occurred
first. Their findings indicated that the
Huntington’s Disease Research Symposium problem in HD is not a defect in the
mitochondria’s capacity to produce energy.
At the same time, the Gusella group
T
investigated variations in mitochondrial
he annual Phyllis E. Dake pipeline the cost of their development and how does this contribute to disease
DNA that might correlate with HD, but
Huntington’s Disease Research increases exponentially. Thus, identifying pathogenesis? Members of the same
did not find any evidence of a correlation.
Symposium serves two functions: outstanding targets in the basic research team may be working on very different
Dr. MacDonald’s group also compared
first, it provides an opportunity to hear phase is crucial given the large financial aspects of a question. The importance
the response of cells expressing mutant
the latest Huntington Disease (HD) investment necessary in subsequent of the Coalition is that it hastens progress
huntingtin with cells in which the
research from leading scientists and how stages. The Coalition for the Cure and by encouraging collaboration and the
mitochondria has been poisoned
it will lead to therapies, and secondly, the Grants & Fellows program provides sharing of materials to accelerate research.
chemically. The results suggest that mutant Nora Riley with Perrin Dake and Barbara Boyle
to recognize and honor Phyllis Dake, funding for this essential basic research.
Dr. Gusella is part of Team 5, the huntingtin affects genes involved in
a longtime friend to the HD research
HDSA Coalition for the Cure researchers Normal Function Team, which seeks gluconeogenesis and lipid metabolism, which inhibit various protease families, Dr. Jang-Ho Cha is a member of Team 4,
community. Although, Mrs. Dake could
have worked in teams, whose goals are to understand the role and behavior of but not specifically genes affected were screened for their ability to prevent the Transcription Team. The goal of this
not attend, “she sends her very best and
to answer one of five basic questions normal huntingtin protein and how this by mitochondrial dysfunction. Dr. small fragments of mutant huntingtin team is to understand how mutant
hopes to be there next year.”
about HD: 1) Is the problem in HD an may contribute to disease prevention. MacDonald has found that the from being produced in a striatal cell huntingtin disturbs these processes and to
Barbara Boyle, HDSA National Executive inherent defect in mitochondrial energy His laboratory is seeking to understand polyglutamine tract in both normal model. One inhibitor of these protease apply this knowledge to the development
Director/CEO, opened the symposium metabolism?; 2) How does huntingtin the disruption of a normal function of and mutant huntingtin correlates with families was found to be effective in of new therapies. He discussed the
by welcoming the panel of scientists and aggregation impact Huntington’s Disease huntingtin which may drive pathology cellular energy levels. She believes that preventing formation of the smallest importance of a multi-pronged
guests. Jim Gusella, HDSA Coalition development and pathogenesis?; 3) What in HD. In these experiments, the gene huntingtin is like a giant “slinky” that fragment (named cpA). Dr. DiFiglia’s approach to developing HD therapies.
for the Cure investigator, from the are the post-translational modifications encoding huntingtin was disrupted in can act as a scaffold for various functions work was performed as part of a drug Transcriptional dysfunction repeatedly
Center for Human Genetic Research that huntingtin undergoes and how can Drosophila melanogaster (fruit flies) and within a cell, but that has no intrinsic arises as an important target for potential
at Massachusetts General Hospital, interruptions of this alter pathogenesis?; also in Dictyostelium discoideum (slime enzymatic activity. Drs. Gusella and “The research supported therapies, as huntingtin interacts
explained the discovery pipeline used 4) What are the primary signaling mold) creating “knock-out” systems. For MacDonald are also collecting samples with many proteins that function in
to take candidate therapies from an idea pathways through which huntingtin acts fruit flies, it was found that huntingtin is for a large Age of Onset genetic modifier by HDSA and presented transcriptional regulation. Because
to a success in the clinic (see page 3 and what is its impact on transcription not a necessary protein. For slime mold, screen using motor symptoms as a
for a full description of the pipeline). As regulation?; and 5) What is the role and however, huntingtin is necessary for the
at the Dake Research different genes are being actively
phenotypic indicator. This screen will transcribed in different cells types,
potential therapies move through this behavior of normal huntingtin protein organism to complete its life cycle. This assess over 1 million spots across the Symposium is expanding this could explain why neurons are
system may therefore yield information entire genome to find normal variations specifically affected whereas other cell
regarding a normal function of huntingtin that can alter the course of HD. our understanding of the types that also express mutant huntingtin
as its rapid lifecycle is suitable for quickly
Dr. Marian DiFiglia is a member of Team basic processes of HD.” are not. While the task of fixing complex
testing genetic modifiers and drugs. transcriptional abnormalities may seem
3, the Proteolysis and Post-translational
Dr. Marcy MacDonald is also part of the discovery program developed by Anne daunting, in fact therapies to attain this
Modification Team. This team conducts
Normal Function Team. Both she and Young at MassGeneral Institute for goal are already being implemented in
basic science on the huntingtin protein
Dr. Gusella were also a part of Team 1, Neurodegenerative Disease (MIND) in the cancer field.
to determine whether the cleavage
the Mitochondrial Energy Metabolism, collaboration with Novartis. The next
of huntingtin is a key factor in the Dr. Steve Hersch, also a member of the
but in the past year that Team achieved step is to test these compounds in a
development of the disease and then Transcription Team, is testing compounds
an answer to its fundamental question. rapid, in vivo mouse model that Dr.
uses this knowledge to define therapeutic identified by basic research in animal
Dr. MacDonald’s group performed DiFiglia has created. Small huntingtin
strategies. Cleavage of mutant huntingtin models, including those that bolster energy
experiments to address whether the first fragments are produced and accumulate
can create small fragments which can production and modify transcriptional
changes observed in cells expressing in the mice allowing one to test the
accumulate in striatal brain cells, travel activities. The team is working with
mutant huntingtin were changes relating efficacy of these inhibitors to block cpA
to the cell’s nucleus and disrupt the cell’s
to mitochondria energy function or in vivo and determine whether this has —continued on page 32.
Barbara Boyle with Coalition investigators Marian DiFiglia, Steven Hersch, Jang-Ho Cha, function. About 100 small molecules,
Marcy MacDonald and Jim Gusella. a beneficial effect.
4 WINTER 2007 | HDSA.ORG Huntington’s Disease Society of America
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H u nti ng to n’s D i sea se S o c i ety o f A m er i c a
research
HDSA Research research
HDSA Research
Clinical Trial Update PREDICT-HD began in September employment and insurance, and also
2001 to study healthy persons who are from foreign sites where health care systems
The Huntington Study Group known to have the CAG expansion in
the HD gene. The intention of the study
may be different from domestic sites.
is to gather essential information on the Upcoming Trials
early stages of
At the end of the HDSA pipeline NIH approved funding for the 2CARE
“Efforts are focused on HD in order to study of coenzyme Q10 versus placebo
for drug discovery are clinical trials develop drugs
which bring the most promising finding treatments that that can slow
in individuals with mild to moderate
Huntington’s Disease. The initiation of
compounds for treatment to make a difference for or postpone
the study was delayed by the FDA who
people with HD. HD families are the onset of
requested additional animal testing since
encouraged to participate in the Huntington’s Disease.” the disease.
the 2CARE study is investigating a much
To date 992
many clinical and observational higher dose (2400 mg./day). With the
participants have enrolled in the study.
trials that are conducted at HDSA additional testing completed, the FDA
Gene negative participants can still
Centers of Excellence and other has now given permission for the study
enroll in this important project.
to proceed. Enrollment of participants at
HSG sites.
COHORT is a long-term observational approximately 46 sites in North America
study taking place at 40 North American and Australia should begin in early 2008.
T
and Australian HSG sites. The goal of
he HSG continues to be very PREQUEL is a trial to test the tolerability
COHORT is to collect information from
active in the Huntington’s Disease and biological activity of coenzyme Q10
individuals who are affected by HD and
research arena. Efforts are focused in those with pre-manifest HD. A grant
those who are part of an HD family, in
on finding treatments that make a was submitted in July 2007 to the National
order to learn more about HD, potential
difference for HD. HSG research trials Institute of Neurological Disorders and
treatments, and to plan future research
cover a wide spectrum within the Stroke (NINDS). PREQUEL has received
PHEND-HD completed enrollment of prolongs life. In a previous HSG trial, Trials Currently Enrolling studies of experimental drugs aimed
Huntington’s Disease community. The 58 study participants in January 2006. minocycline was shown to be safe and positive feedback and plans are being
DIMOND B is a clinical study using at postponing the onset or slowing the
following overviews describe the most The study was designed to gather tolerable in HD patients at doses of 100 finalized with NINDS. Christopher
a research medication, Dimebon, in progression of HD. This study is recruiting
current HSG research trial activity. information on the safety and tolerability mg. and 200 mg. per day over 8 weeks A. Ross, M.D., Ph.D., is the principal
patients who have mild to moderate both adults and children who have
of the experimental drug phenylbutyrate. of use [Neurology 2004: 63:547-549]. investigator and Kevin M. Biglan, M.D.,
clinically diagnosed HD and adults who
Trials Recently Completing This compound inhibits histone
Huntington’s Disease. Dimebon is an M.P.H., is the co-principal investigator.
Enrollment TREND-HD was designed to determine investigational medication that has been are a part of an HD family. Individuals
deacetylase (HDAC), an essential CREST-E, a trial to test the safety,
the effect of the experimental medication shown to inhibit brain cell death in models who choose to participate will have one
TETRA-HD completed enrollment component of the body that “turns on” tolerability and efficacy of creatine in
ethyl-EPA on the motor (movement) signs of HD and Alzheimer’s disease (AD). study visit every year. There are currently
of 84 participants in December 2003. or stimulates genes. Phenylbutyrate may persons with HD, is scheduled to move
and symptoms of HD. 41 North American In a 12-month study of patients with 864 participants enrolled in COHORT.
Tetrabenazine is a drug widely available be a potential drug therapy in HD by ahead. As of November 2007, funding
HSG research sites evaluated 316 Alzheimer’s, Dimebon was well-tolerated
in Europe and Canada. It eases one of directly helping to turn on genes that are RESPOND-HD is an observational trial
participants with early signs of HD. and significantly improved cognition and has been secured from the National
blocked by HD. The potential benefit of looking at issues of potential discrimination
the most disabling symptoms of Preliminary results announced in April Center for Complementary and Alternative
memory, behavior, activities of daily living in those affected by HD. The information
Huntington’s Disease, involuntary phenylbutyrate in people with HD has Medicine (NCCAM) and the FDA
2007 showed no statistically significant and overall function when compared to
never been established. The analysis of gathered in this study will allow researchers
writhing movements known as chorea, difference between those taking the Orphan Products Division. Steven
placebo. The current HSG study will assess to examine the experiences of persons
according to a study published in February the data is ongoing. Hersch, M.D., Ph.D. is the Principal
experimental drug and those on placebo the effects of Dimebon on cognition, who have undergone genetic testing for
2006 [Neurology 2006;66:366-372]. DOMINO completed enrollment of 114 over six months of study. There was no Investigator.
memory, behavior, and motor function HD or those persons who are at risk for
Prestwick Pharmaceuticals, Inc., the participants in May 2007. Participants evidence in the preliminary analysis of HD patients, as well as the safety and HD. Study participants from PHAROS
study sponsor, has filed a New Drug of any major safety concern. Further For more information on these studies and
are still undergoing study visits. Recent tolerability of the drug when administered and PREDICT research studies are being how to participate, please see the HSG
Application with the FDA to market the studies in a mouse model of HD have evaluation of the data is currently over a 3-month period. DIMOND B recruited for this study as are those from website (www.Huntington-Study-Group.org).
product for treatment of chorea in the demonstrated that minocycline helps to taking place. is seeking to enroll approximately 90 geographical areas where there are
United States. Review of the application slow down the clinical onset of HD and study participants. differing discrimination laws for
is pending.
6 WINTER 2007 | HDSA.ORG Huntington’s Disease Society of America
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H u nti ng to n’s D i sea se S o c i ety o f A m er i c a
research
HDSA Research research
HDSA Research
Methodology & Observations
psychiatric events occurred. Thereafter
motor skills were stable while cognitive
From the Huntington’s Disease Drug Works Trials skills declined.
By LaVonne Goodman, M.D., and Nathan Goodman, Ph.D. Non complaint early to middle
stage participants: Six participants
A
s a physician caring for After Institutional Review Board (IRB) Participants: Thirty participants were were non compliant, or did not take
Huntington’s Disease (HD) approval, each participant obtained enrolled over the three years. Twenty- supplements as directed. All participants
patients, I am often asked about a family member’s support and local three have been followed for between 2 in this group declined in motor,
supplements that have shown benefit physician’s supervision. Each performed and 3 years (depending on individual start cognitive, or both test measures.
in animal models of HD. Many people finger-tapping (motor) and cognitive date). Of the remaining 7 participants,
Advanced stage participants:
use these supplements without guidance (thinking) tests on their home computer; there has been 1 death (due to lung
The remaining 8 participants had
or supervision. Even when the doctor is first to establish individual baseline cancer), 3 nursing home placements,
advanced disease, or could not function
aware of supplement use, it is difficult to measures, and then to monitor progress and 3 withdrawals (associated with
independently at the beginning of the
monitor its effect. In 2004, I established after beginning supplements. This test psychiatric events). They include men
trial. Despite compliance maintained
the Huntington’s Disease Drug Works data, which was performed several times and women between the ages of 34 and
with the help of dedicated caregivers,
(HDDW) with Nathan Goodman, a per month was received over the internet 75 from all areas of the country, and
6 out of 8 participants have declined.
computer scientist, in an effort to address and analyzed at HDDW’s secure site. unlike traditional clinical trials, late
Three compliant participants were
this situation. Together, we developed a Functional status was independently stage participants were not excluded. worsening. Fourth, greater benefit to use supplements, and some don’t.
stable, then began decline (going from
web based testing method to monitor the assessed by interview with each patient correlated with stage of disease: those It is the patient’s choice. ■
walking to wheelchair) at the time of
motor and cognitive skills of volunteers and/or family mentor. Results with earliest stage improved, middle
medical illness or surgery. Both non About the author: LaVonne Goodman is a
who agreed to be observed while each stage stabilized, and late stage worsened.
Supplements: Supplements included Compliant early to middle stage compliant patients worsened. Huntington’s Disease family member and
was taking a cocktail of supplements. Though we admit there could be other
creatine, coenzyme Q10, an omega 3 internal medicine physician in Washington
participants: Six out of 9 participants explanations, all of these observations State where she cares for HD patients
Now that the trials have reached the combination of EPA and DHA, trehalose, in this group who have taken all supple- Discussion fit the pattern that would be expected and facilitates support groups. In addition
three year mark, we are pleased to share and blueberry extract. Except when ments rigorously have shown improved to her work with HDDW trials, she is
We acknowledge that HDDW observa- if all or part of the treatment cocktail
our observations. To summarize; the products were limited, participants were or stable test measures of cognitive and editor for the HDDW website (www.
tional trials have limitations that include gives benefit. hddrugworks.org) that provides information
majority of those with early or middle offered all of the supplements. Care was motor function and functional capacity.
small numbers, no placebo controls, no on treatments for HD. She is a former
stage disease who consistently took the taken to supply quality supplements, Two other participants in this group We also observed that our web based
blinding, and possible compliance bias president of the HDSA Northwest Chapter,
combination of supplements showed and when possible from companies who did not take trehalose had either test results are in close agreement to recipient of the 2006 Hunt-Dis Hero award
(compliant patients often have healthier and has served on the planning committee
either improvement or stabilization of whose product was approved for use motor or cognitive worsening. The final the clinical outcome of every participant
life-styles than non compliant patients). for the 2007 Inaugural HD Symposium.
test measures and functional capacity in FDA sanctioned clinical trials (see participant in this group demonstrated over time. We suggest that this type of
These limitations prevent generalizing
during the duration of the trial. table below). stability with all test measures until testing is an economical way to monitor
of our results to the broader population
real world patients on a much larger
of patients.
Trial Description scale than possible with present
However, despite these limitations we research methodology.
HDDW trials are not conducted like Supplement Dose Source believe there are useful observations.
traditional research trials. HDDW trials And finally, as a physician treating HD
Creatine 5 gm 2 times/day Avicena First, there were no significant side
were not placebo controlled or blinded, patients, how do I use these results? I
effects due to the supplement cocktail.
which means that every participant give information about our observations
Coenzyme Q10 150 gm 5 times/day Tischon Second, though we can’t exclude chance
received a known supplement and emphasize that more certain
(= to 1200 Vitaline/day) events, motor and cognitive skills either
combination, and unlike traditional answers regarding supplement use are
improved or showed 2-3 year stabilization
research trials, participants were allowed Trehalose 25 gm 3 times/day Sweet & Low unknown until definitive clinical trials
(or lack of progression) for the majority
to take additional supplements or are completed. If a patient decides to
of compliant early and middle stage
medications like minocycline and DHA, Omega 3 1 gm EPA 2 times/day Omega Brite use supplements, I give guidance and
300 mg DHA 2 times/day participants. Third, participants who
or psychiatric medications as needed. information on safest products, and
were non compliant or stopped
Those with a psychiatric history were Blueberry Extract = to 1 cup blueberries Brownwood Acres monitor for side effects. Some choose
supplements during the trial showed
not excluded.
8 WINTER 2007 | HDSA.ORG Huntington’s Disease Society of America
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H u nti ng to n’s D i sea se S o c i ety o f A m er i c a
research
HDSA Research research
HDSA Research
World Congress Ira Shoulson (HDSA Center of
Excellence at the University of Rochester
Jane Paulsen presented a study on
obsessive-compulsive symptoms in
Elizabeth Howard (UK) presented
an update on a 2003 study that used
on Huntington’s Disease Meets in Germany and Chair of the Huntington Study
Group) discussed recently completed
pre-symptomatic HD, noting that these
symptoms may be useful measures to
walking and drinking time to standardize
motor assessment in HD. Researchers
and currently recruiting trials for HD. track disease progression and important found a significant correlation between
T
Information about these studies can contributors to functional status. these measures and chorea and
he third World Congress on
be found on the Huntington Study dystonia scores.
Huntington’s Disease met in Stefan Kloppel (UK) discussed
Group website at www.huntington-
Dresden in early September, irritability, depression and anxiety Diana Rosas (New England HDSA
study-group.org.
bringing together the top HD investigators in pre-symptomatic HD, finding that Center of Excellence) presented on the
from the World Federation of Neurology Monica Busse (UK) spoke on the pre-symptomatic individuals became use of neuroimaging as a way to identify
Research Group on HD and the effects of physical therapy on movements very irritated with people close to them the factors that influence cortical thinning
International Huntington Association and function in HD and the need for and that this irritation was related to and subcortical atrophy, which may
for three days of scientific, clinical and studies to measure its impact. impulse control and anger. account for why HD progresses differently
lay presentations. in each person. Dr. Rosas also presented a
Anne Young (Massachusetts General Ferdinando Squitieri (Italy) discussed
study on the use of Plasma 8-OH2dG as
The Congress opened with a moving Hospital) discussed how the addictive Juvenile HD and how an expanded CAG
a biomarker for HD. There are dramatic
tribute to Milton Wexler by his daughter tendencies seen in people with HD repeat may be more toxic than an adult
increases of 8-OH2dG in people with HD
Alice, followed by an overview of the could be due to an excess production expansion, causing a more severe
and elevated levels in pre-symptomatic
disease and its history by Alice and of dopamine caused by the disease. disease course with faster loss of
individuals which then spike at
Nancy Wexler and a discussion of future independence.
Erik van Duijn (Netherlands) presented disease onset.
trends led by Jim Gusella, who noted
a study showing that pre-symptomatic A. Painold (Austria) used a low resolution
that there is a need for greater emphasis Kevin Biglan (University of Rochester)
individuals have a higher incidence of brain electromagnetic tomography
on the entire HD disease process rather continued the discussion of 8-OH2dG
depression and obsessive-compulsive (LORETA) or 3D tomography to identify
than only its end stages in order to promote by presenting the results of the Pre2Care
disorders than those with HD, postulating predominantly involved brain regions
effective drug discovery. study which, using 2400 mg./day of
the need for adequate treatment for in individuals with HD. Findings were
CoQ10, showed no difference in levels of
Leslie Thompson (HDSA Coalition psychiatric disorders in these groups. consistent with the known deterioration
Breakout sessions followed and focused Diana Rosas (New England HDSA 8-OH2dG between individuals with HD
for the Cure) spoke on potential targets and atrophy of the frontal lobe in HD.
on studies in drug discovery and clinical Center of Excellence) talked about the Julie Snowden (UK) discussed a study and control participants using CoQ10.
for treatments for HD, including the
trials, clinical features of HD, biomarkers use of neuron-imaging to measure that assessed the difficulty people with
165 potential proteins found by HDSA —continued on page 31.
in HD, genetic testing, and HD-related atrophy and shrinkage in the striatum HD have in recognizing emotions,
Coalition for the Cure investigator
disorders. and cortex in order to determine who particularly anger.
Eric Wanker and the 17 different
amino acids identified by HDSA would most benefit from a clinical trial. Susie Henley (UK) presented a study
Jane Paulsen (HDSA Center of
Grant recipient Ray Truant. Dr. Rosas also noted the results of a phase that used MRI scans which found that
Excellence at the University of Iowa)
spoke about the early results of PREDICT,
two trial of creatine (CREST) which an HD test group was statistically Centers of Excellence: Hot Topics
Ron Wetzel (University of Pittsburgh) showed the significant impact creatine
a study designed to characterize the early significantly worse than the control
told of the varied approaches that are has on the rate of change in the cortex. • The HDSA Center of Excellence • The HDSA Center of Excellence
neuron-cognitive measures of HD for use group in recognizing emotions, with a at Johns Hopkins University/ at Indiana University School
being studied to combat aggregation
in clinical trials. The study is seeking Robert Pacifici (CHDI, Inc.) elaborated disproportionate impairment in anger Hospital is conducting a study of Medicine is participating in
within cells, stimulate the removal of
renewal with the NIH. recognition in early HD. to determine whether the drug RESPOND, an ethical, legal and
aggregates, and block the downstream on the pipeline for drug discovery that
mementine (Namenda) which social implications study funded as
effects of aggregation. investigates unique compounds that Julie Stout discussed findings of the is approved by the FDA for an add on to the PREDICT study.
Julie Stout (HDSA Center of Excellence
could potentially translate into treatments PREDICT HD observational trial on the Alzheimer’s Disease, might also RESPOND will collect data similar
Michael Levine (UCLA) looked at at Indiana University) discussed a series
for HD. To date, 60 molecules have improve memory and thinking to that collected in PHAROS for the
of tests, or “toolkit”, being developed to elevated levels of depression in pre-HD
neuronal dysfunctions in the striatum and resulted in a positive methodology that ability in patients with HD. Go to the purposes of comparison as well
detect subtle changes in pre-symptomatic individuals, which will assist clinicians website at www.hopkinsmedicine. as survey potential discrimination
cortex that precede neurodegeneration in can be reproduced.
individuals, for use in determining drug in identifying those who may benefit org/psychiatry/neurobiology/bhdc. resulting from genetic testing.
mouse models which may be precursors
effects in clinical trials. from treatment. html for more information.
of symptoms.
10 WINTER 2007 | HDSA.ORG Huntington’s Disease Society of America
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H u nti ng to n’s D i sea se S o c i ety o f A m er i c a
research
HDSA Research research
HDSA Research
Coping with Cognitive Decline in HD Executive functioning helps us plan,
organize, sequence, and inhibit ourselves
By Kevin Duff, M.D. when necessary. Without these skills,
we might have difficulties with problem
solving (e.g., following instructions to
A
baking a cake or work a DVD player).
long with involuntary movements Processing speed is an indicator of information that you can process. In a
Unfortunately, difficulties with executive
and psychiatric symptoms, how quickly a person can mentally and research lab, working memory can be
functioning can occur early in the course
cognitive difficulties are a physically perform specific actions. assessed by asking someone to remember
of HD. Ways to cope with executive
common obstacle faced by patients with Playing tic-tac-toe, figuring out a tip at a long string of numbers. In day-to-day
dysfunction include: 1) be concrete
Huntington’s Disease (HD) and their a restaurant, or deciding which clothes life, working memory is tapped when we
(i.e., don’t talk about things in the abstract);
families. These cognitive problems to wear all require processing speed. As try to do more than one thing at a time
2) be clear (i.e., say what you mean); and
can include slowed processing speed, HD progresses, processing speed slows (e.g., talk on the phone and sort laundry
3) be detailed (i.e., don’t be ambiguous).
decreased working memory, impairments and slows. This can be frustrating for and pay bills). In HD, individuals lose
For example, if you want your spouse
in learning and memory, and executive the individual and those around him/ this ability to “multi-task.” We can cope
with HD to wear the blue shirt and tan
dysfunction. Recent research indicates her. Possible solutions for this slowed with this decrease in working memory
pants to the party, then say that
that subtle cognitive problems can processing speed include: 1) allowing by: 1) keeping things simple (e.g., one or
concretely, clearly, and with detail.
begin before HD diagnosis and progress extra time in the schedule (i.e., don’t be two things vs. three or more); 2) writing
throughout the course of the illness. in a hurry or wait until the last minute); things down (e.g., lists of errands); and Individuals with executive difficulties
3) minimizing distractions (e.g., the more also thrive with routine, so plan regular medications that are more suitable to the About the author: Kevin Duff is a clinical
2) focus more on accuracy than speed;
These cognitive difficulties can lead to specific cognitive deficits in HD are neuropsychologist and Assistant Professor
3) use closed-ended questions with noise around you, the more strain on activities and stick with them to make of Psychiatry at the University of Iowa. His
day-to-day problems with work, driving, currently being investigated.
limited choices (e.g., “Would you like your working memory). life predictable (e.g., mealtimes, outings, clinic interests include neuropsychology
and home life. Although patients and and dementia, and his research interest
chicken or fish?” vs. “What do you want doctor’s appointments). Lastly, despite a Cognitive problems do occur with
their families might not be able to stop Similar to Alzheimer’s disease, individuals includes Mild Cognitive Impairment and
on this 6-page menu?”); and 4) keep great routine, changes are unavoidable. HD. However, options are available
the development of these cognitive with HD can appear to have difficulties HD. When not at work, he enjoys spending
conversations focused on one topic. If unexpected changes need to occur, to cope with these cognitive problems time with his family outdoors and riding
difficulties, there are some things they learning and recalling information.
prepare, prepare, prepare the individual and minimize their impact on his bike.
can do to manage these difficulties and Working memory, like processing However, unlike Alzheimer’s Disease,
for those changes in routine. daily functioning. ■
optimize the functioning of the affected speed, deals with the amount of memory in patients with HD is often
individual. better than it appears. When given cues The coping mechanisms mentioned above
or reminders, individuals with HD can are things that a patient and his/her family
show that their memory can be quite can do to deal with cognitive difficulties.
good. Examples of cues include making There are also things that health care
lists for the grocery store or using providers can do to help with these Centers of Excellence: Hot Topics
dry eraser boards to keep track of symptoms of HD. Speech therapy, for
appointments. These cues jog the example, can assist with communication • The George G. Powell HDSA • Researchers at the HDSA Center
Center of Excellence at North of Excellence at the University of
memory of the HD patient, which is the problems that can occur in the disease.
Shore University Hospital is Washington (WA) are looking for
little bit of extra help they need at times. Physical therapy can be used to adapt seeking to develop state of the biomarkers of HD that can be
to motor skills deficits. Cognitive art imaging methods for use as used in prognosis, assessment
Other ways to improve memory
rehabilitation can teach patients methods biomarkers in clinical trials of new of severity and longitudinal
include: 1) using mnemonic strategies therapies for movement disorders. evaluations. One study is looking
to compensate for their memory, language,
(e.g., HOMES is the first letter of each Researchers have used Positron at muscle tissue, one is looking at
and problem solving difficulties.
of the Great Lakes); 2) pre-organizing Emission Tomography and MRI to spinal fluid and the third is looking
information that needs to be remembered study disease progression both in at MRI/SPECT of both brain and
Although some medications for memory
presymptomatic and symptomatic muscle. A fourth study is evaluating
(e.g., write the grocery list in the order problems in Alzheimer’s Disease (e.g., HD. The goal of the research the long term neuropathological
of the aisles in the store); and 3) limiting donepezil) have been tried in HD, project is to facilitate and hasten and biochemical changes in people
information to what is necessary. the results have not been particularly the screening and testing of new with HD who had fetal brain tissue
encouraging. Nonetheless, other therapies for HD. transplants many years ago.
12 WINTER 2007 | HDSA.ORG Huntington’s Disease Society of America
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H u nti ng to n’s D i sea se S o c i ety o f A m er i c a
atAtrisk
Risk atAtrisk
Risk
The Life Given Us
was most thankful for his family. We
felt heavy and sick with the burden of
By Nancy Hummer what we now knew, and our minds were
foremost on my brother’s children who
might possibly face this disease, too.
“
W
hat happened to grandma?” My analogy of our family situation,
I asked my father more than although harsh, speaks to how I felt that
once through my life, as I day: imagine a terrorist walks into your
struggled with his insufficient answers. home and informs you that he is going
No minor question – I repeated whatever to obliterate your family, by causing a
I learned to my brothers, who came to disease that will slowly disintegrate the
me to speak in hushed tones about what mind and body of half, or maybe more,
this meant for our own future. The way I of your family members. Then this
puzzled it was this: how could a person, terrorist asks, “Do you want to know who
one of the first women to graduate in I am going to pick? Or do you want to
often of the vision I had of myself as a to look for and expect something new
journalism at Ohio State, someone so just wait and see?” What form of torture
wise old artist. What a rare gift to be in its place, however bittersweet or
active in the mind, so lively a dancer could possibly be worse? This disease is a
given so clear an image about what I discomforting. Here is what I think about
with striking good looks, come to sink terrorist, and this is the nature of the war.
want from life! Perhaps it is not the life today: it will undress us, render us
so deep into depression? Dad explained
Today, I wait for test results from the “being” that is so important, but rather bare to the bone, no matter who we are,
it to me by saying she never recovered
Johns Hopkins Huntington’s Clinic. So the awareness that enables us to live but if we dare to live with this truth, we
from significant deaths of close friends
far, I am the only one in my family to go toward a dream. They also tell you that can live beyond ordinary boundaries.
and family. Later, when asked about her
through with the test. Although I initially no matter what the outcome of the test, And dream of imagined and unimagined
loss of speech and rigid movements, he
assumed we should all know whether you must live your life. So, rather than possibilities for a cure that will erase
said that the doctors thought she probably
we have the gene mutation, I have dwell on what has been taken, better this terrorizing threat to our families. ■
suffered a series of small strokes.
since changed my philosophy and fully
So when dad began manifesting embrace whatever choice my siblings
grandma’s familiar jerky movements we make. As I continue with my aggressive
wondered anew what was in the family fitness routine, I think of my dancing
Centers of Excellence: Hot Topics
genes. We researched neurological grandmother, my athletic father and
• The HDSA Center of Excellence • Researchers at the HDSA Center
disorders but nothing seemed to fit. It brothers; I look at my own body. at Hennepin County Medical of Excellence at Rush University
is hard to imagine now how we missed Center (MN) analyzed the role Medical Center are studying falls
it, but the description of Huntington’s “This disease is a terrorist, of hospice in the care of patients which are common in HD and
with end-stage HD. This was have severe consequences. They
Disease was far too extreme to match Now middle aged adults, we thought as I grieved for my grandmother who and this is the nature of war.” a retrospective study of the are studying clinical predictors
our observations. Our attempts to get we were prepared for any clinical endured our judgment for giving up and characteristics of patients in a (motor, cognitive, functional state,
dad to a doctor fell on deaf ears, as the diagnosis. We could not have known the failing to overcome her adversity. Somehow, I am learning that happiness single facility at entry into hospice, medications, etc.) that predispose
patriarch of our family was not about gravity of the shockwave that was about is an autonomous energy that alights and the role that hospice played to falls in the hope that modification
to submit to a doctor. Medication, he But worse was to come. We accepted even in the darkest of times. I can still in their management. This study of these predictors may help in
to hit us. One of the first clear images to
the test confirming dad’s Huntington’s was presented in September at the fall prevention. This center is also
insisted, would only hamper his golf rise up in me was the realization that I celebrate what I have in the here and
World Congress on HD. In a new working on the development of care
game. After years of family discussion, Disease from a family doctor who was now. I can still honor my physical being,
might not live to be a wise old artist and study this center will look at the techniques that will help caregivers
oftentimes heated, he was finally stopped ill-equipped to counsel us and left with no matter what hand I have been dealt. role of music therapy in improving with troublesome behaviors and
I felt the first wave of loss in an immediate,
by a police officer who rescinded his no more knowledge than we came with This is how I know I am ready for the gait in people with HD. disabilities in HD. There is also
visceral way. My brothers and I were
and a deep sense of frustration. Dad’s results of my test. a study that is assessing the
driving privileges until he was examined so used to joking about how we were
response was more comforting. Not a effectiveness and safety of
by a doctor. becoming like dad, I was programmed psychotropic medications on motor
man prone to emotion, he reassured us One of the questions they ask before you
to assume whatever he had was coming and behavioral function in HD.
that he felt great, did not suffer pain and are tested is, “what will you do differently
my way. Now, I felt a sense of shame if the test comes back positive?” I think
14 WINTER 2007 | HDSA.ORG Hu n ti n g ton ’s Di sea se Soc iet y of Am eri ca
15
H u nti ng to n ’s Di s ea s e So ci e ty of A me ri ca
[ FEATURE STORY ] [ FEATURE STORY ]
Hospice: Tai Chi for Individuals with
Living Each Day in Comfort and Dignity Huntington’s Disease By Nicola Briggs, Certified Tai Chi Instructor
“Hospice is a way of caring for the shown that many patients live longer Tai Chi is an ancient Chinese health It also provides an avenue for success
dying.” You often hear this answer because of the excellent nursing care system that focuses on harmonizing and a sense of achievement. With its
when asking for a definition of hospice. and the focus on comfort. Hospice the body’s vital life forces, or “Chi”, focus of acceptance of one’s abilities,
But hospice is so much more than does not take away choices regarding to provide the benefits of relaxation, as well as limitations, this healing
just physically caring for terminally-ill future care. If the patient’s condition increased mental and physical art can help to greatly improve
patients. In fact, the focus of hospice improves, or if the patient and family awareness, and gentle conditioning self-esteem.
is on living each day to the fullest in so choose, the hospice patient can for every part of the body. It is
Tai Chi exercises can be performed
comfort and dignity, at home or in be discharged and readmitted at a characterized by slow, graceful
standing or seated. Performing Tai
a home-like setting, surrounded by later time. movement, performed either
Chi exercises can be challenging and
those you love. standing or seated.
Because the Medicare Hospice the sense of achievement that follows
Hospice offers the services of nurses, Benefit, Medicaid Hospice Benefit, Research has shown that consistent a class is significant. Taking on new
home health aides, social workers, and most private insurers cover Tai Chi practice can significantly challenges stimulates a feeling of
chaplains, counselors and volunteers hospice care, there are usually no improve balance and coordination, satisfaction and accomplishment
to the patient and their family. charges for care. Most hospices will which has increased its acceptance that greatly improves the quality of
Hospice can relieve the stress on the work with patients who do not have within the health care community. life. Tai Chi is a safe and productive
caregivers by providing daily help insurance coverage to ensure that It also increases blood, lymphatic, way for each individual living with
with care, cooking, housekeeping they receive the services they need. and cerebral-spinal fluid circulation, Huntington’s Disease to explore their
and even errands. Counseling and Hospice pays for medical supplies, which has a nourishing effect on the personal power.
bereavement support for the patient, equipment, and medications related cells and all bodily systems. Principally
Performing Tai Chi exercises helps
their family and the circle of friends to the terminal illness. Hospice also used to improve the flow of energy
create a state of mental and physical
is also an integral part of the hospice provides an on-call nurse, 24 hours throughout the body, Tai Chi is an
relaxation. This relaxation can
holistic approach to care. a day, 7 days a week, giving the effective form of self-healing that
temporarily reduce chorea and can
caregiver the peace of mind in gives students a concrete feeling of
One thing that sets hospice care apart be beneficial in delaying the onset of
knowing that a nurse will respond greater independence and confidence.
from other kinds of health care is that, muscular rigidity. It is a progressive
if there is an emergency. This ancient practice allows students
whenever possible, the patient and exercise, with each classroom
to assume greater responsibility for
family direct the care. Starting with A comment heard over and over is, experience building upon the
their own mental and physical health,
admission and continuing with each “We wish we had called hospice previous one, using repeated
which is the very essence of internal
“ “
nursing visit, the needs and wishes of sooner.” Hospice provides the movements to stimulate memory.
power. Tai Chi can be a very beneficial
A comment heard the patient and family are evaluated
and incorporated into an ever-changing
greatest support when there is time
to establish rapport with the patient
activity for people with HD.
It can reduce stress and improve
overall focus and concentration. Tai
Performing Tai
over and over is, and flexible plan of care. The ultimate and the family – allowing months, not Tai Chi exercises can increase range Chi exercise helps to bring about an Chi exercises
goals of this process are self-determined days. Hospice professionals cannot of motion and muscle tone with their acceptance of changes, while inspiring
‘We wish we had life closure, aggressive pain and take away the pain and sadness of gentle stretching movements. Instructors hope for the future. ■ helps create a
symptom control, and healthy grieving saying goodbye to a loved one, but focus on correct postural alignment
called hospice both for the patient and the family. they truly do know how to help. You during each class activity, which helps Nicola Briggs is a Certified Tai Chi state of mental
”
Instructor who works with HD patients
sooner.’ However, there are several things that
can locate a hospice near you by promote positive body awareness,
and others at the Terence Cardinal and physical
”
contacting the National Hospice both external and internal. Cooke Health Care Center in New York.
hospice does not do. Hospice does not
replace the caregiver and the family.
and Palliative Care Organization,
Tai Chi practice is a positive way to
She can be reached at www.taichi relaxation.
703-837-1500, or by going to their school.com/taichiforeveryone.html.
Hospice care does not hasten the dying manage and dissipate depression,
website at www.nhpco.org. ■
process; in fact, recent studies have angry feelings and negative behavior.
16 WINTER 2007 | HDSA.ORG Huntington’s Disease Society of America
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H u nti ng ton’s Dis ea s e S oc iety of A m er ic a
caregivers link
Caregivers Link caregivers link
Caregivers Link
Caregivers as Advocates Finding Facts on the Internet
A S
family caregiver assumes no background or experience in medical Finding allies within the system is also urfing the Internet for information there are miracle cures that are being When you find interesting research on
the role of medical advocate, settings or dealing with insurance critical. Be on the lookout for a helpful about health has become a common withheld from the public. To find reliable the Internet and want to share it with
insurance manager and all companies and it is easy to get frustrated nurse, social worker or physician online activity. In fact, the Internet information, it is wise to start your search your doctor, try to narrow the information
around ‘point person’ for their loved and to lash out in anger. However, putting who can give you an inside track to has become a primary source of health on the websites of reputable organizations: down to the most important points you
one. The uncertainty and concern of a doctor, nurse or administrator on the understanding how the system works. information for many Americans. The government agencies, not-for-profits and wish to share and show the doctor that
dealing with a loved one’s illness is defensive will not improve the care of The better you can communicate with Pew Internet & American Life Project entities known for their integrity. As an you have garnered the information from
aggravated by the complexities of our your loved one. When confronted with these individuals, the more guidance recently reported that people with example, Healthfinder.gov is a website a reputable source. While more and
healthcare system. Learning to navigate a roadblock to care, remind yourself they will be willing to give. The National disabilities and sponsored by the Office more doctors are accepting their patients’
successfully through the system takes a Family Caregiver’s Association has a series chronic conditions of Disease Prevention and internet research and will gladly discuss
combination of patience, perseverance
“Becoming informed about of articles to give caregivers the tools such as HD are some
“... the Internet has Health Promotion for the what you have found, your doctor may
and courage. your loved one’s illness is they need to be better communicators of the most avid users become a primary U.S. Department of Health not have time to look through a mass
and effective members of the healthcare of Internet health sites and Human Services. It is a of website printouts.
It takes patience to get the information
also crucial to being an team. These articles can be found online and that their online source of health solid starting point for finding
and attention you need from a system It can be encouraging to stay abreast
at www.thefamilycaregiver.org in the searches affected legitimate, up to date health
that is not friendly to patients or effective advocate.” Caregiving Resources section. treatment decisions,
information....” information from a variety
of current research trends using the
caregivers. It takes perseverance to Internet. Scientists and investigators
of what you want to accomplish in the their interactions of sources. HDSA’s own
politely and firmly demand that your Becoming informed about your loved around the world are diligently striving
short term. What are your immediate with their doctors, their ability to cope website (www.hdsa.org) has links to
questions be answered, and it takes one’s illness is also crucial to being an toward breakthroughs in understanding
goals and how can this person help you with their condition, even their diet and resources, current research and a wide
courage to trust that you have an effective advocate. The more you know, and treating HD and its symptoms. HDSA
accomplish them? A person who feels fitness routines. People are taking what variety of publications you can download.
important role to play as an advocate for the more effectively you will be able to and its partners, CHDI, Inc., and the
under attack is unlikely to go that extra they find on the Internet very seriously. Other good sources of information
your loved one. Now, how do you do it? communicate with doctors, insurance Huntington Study Group are working to
mile for you or your loved one. Manage are the National Institutes of Health
administrators and others. HDSA has Unfortunately, when it comes to expedite the movement of basic research
Learning to communicate effectively is the situation at hand and at a later time (www.nih.gov), the National Institute
resources and information which can information on the Internet, it falls entirely into effective treatments for the disease
perhaps the most important skill a family you can write a letter of complaint or of Neurological Disorders and Stroke
help you gain a better understanding on the user to determine the value and through the HDSA Research Pipeline
caregiver can cultivate. Most of us have seek other redress. (www.ninds.nih.gov), the HD Lighthouse
of the disease. A wide range of helpful truth of what they read. Anyone can for Drug Discovery, which you can
(www.hdlighthouse.org) and the
publications can be downloaded from publish on the Internet and there is plenty read about starting on page 3 of
Huntington’s Disease Advocacy
our website, www.hdsa.org. of information that is untested, inaccurate, this magazine. ■
Center (www.hdac.org).
even dangerous. Because there is such
Especially with a complex disorder
a vast amount of information (and
such as HD, the family caregiver has
mis-information) to be found online, it
an important role to play as advocate
is extremely important to use safeguards
for their loved one. You know the patient
when surfing the web.
better than anyone and you will be
the one who will bear the impact of When you use a search engine, such as
decisions that are made for their care. Yahoo or Google, to research a medical
Learning how to communicate within topic, you may be confronted with a
the healthcare system, to be confident list of thousands of websites, with no
and persistent in asking questions will guidance on their quality or accuracy.
help you become an equal partner in Some websites are commercial, designed
the healthcare team. ■ to sell things. Some are filled with
unsupported information and conjecture.
Some websites want you to believe that
18 WINTER 2007 | HDSA.ORG Hu n ti n g ton ’s Di sea se Soc iet y of Am eri ca
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H u nti ng to n ’s Di s ea s e So ci e ty of A me ri ca
progress report
Progress Report advocacy
Advocacy
HDSA Centers of Excellence HDSA is Awarded Grassroots Technical
Receive Grant from New York State Advocacy Grant from National Health Council
I I
n April, HDSA was awarded $50,000 through the NYS Department of Health. Gottfried, Chair of the NYS Assembly n June, HDSA was selected from clinician, a social worker and a non-family Congress that convenes in January
as part of the New York State budget Each Center of Excellence will receive Committee on Health. Through their among 15 voluntary health agencies chapter member plus two staff. while also pursuing re-classification of
to provide partial support for three approximately $16,000 to support efforts, and those of HDSA staff, HDSA by the National Health Council to eligibility through the Social Security
In phase 2, our task team discussed
HDSA Centers of Excellence located in medical and social services offered to was able to secure this partial funding receive a year of consulting services Administration itself.
several issues that challenge our families
New York at: the University of Rochester, HD families in their region. for one year while also using the from a Washington DC based advocacy
including those regarding long term care, As the team moves into phase 4, it
Columbia Health Sciences/NYS Psychiatric opportunity to develop a model that firm. The purpose of the $25,000 “in
HDSA would like to thank volunteer genetic discrimination, universal insurance will be asking advocates who reside
Institute and the George G. Powell Center may be used in other states to support kind” grant is to build upon the advocacy
Katie Moser and HDSA Center of coverage, mental health benefits, local in key districts of House and Senate
of Excellence at North Shore University the medical and social services provided network HDSA has in place and to
Excellence director, Dr. Andrew Feigin, lobbying to support HDSA Centers of Subcommittees who govern Social
Hospital. The award will be administered by centers in that state. ■ expand the grassroots efforts of the agency
who met with Assemblyman Richard Excellence (see accompanying piece on Security to actively join its efforts to help
in order to effect either a legislative or
page 20), Medicare eligibility and Social introduce the legislation by meeting with
policy change.
Security disability eligibility (SSDI). Task their representative either in Washington,
HDSA Recognizes Our National Family Caregivers The grant consists of five phases:
creating a working group of no more
team members unanimously chose to
lend their efforts to the re-classification
DC or in their home district.
Phase 5 will bring the implementation
N
than 8 people comprised of 50% of disability eligibility for HD under
ational Family Caregivers • Remind caregivers to protect their • Help a family caregiver decorate their of the plan. As the team moves forward
volunteers and 50% staff, identifying social security and, as a sub-task, to
Month is celebrated each health, reach out for help, and speak home for the holidays or offer to address with this grant, the Washington-based
the objective, developing a campaign, work toward obtaining a waiver to the
November to thank, support, up for their rights. envelopes for their holiday cards. advocacy consultant will be lending
securing resources and implementing two-year waiting period for Medicare
educate and celebrate more than 50 his expertise at each stage of the plan
• Offer a few hours of respite time to a • Find 12 different family photos and have the campaign. benefits once a person with HD is
million family caregivers across the to ensure that the team maximizes its
family caregiver so they may spend a copy center create a 2008 calendar deemed eligible for SSDI.
country who currently provide an estimated In phase 1, HDSA sought volunteers efforts and utilizes the breadth of HDSA’s
time with friends or simply relax. that the family caregiver can use to
$306 billion in “free” caregiving services. who represented a broad share of our Currently in phase 3, the task team grassroots network. If you are not already
keep track of appointments and events.
• Send a card or a bouquet of flowers to stakeholders. Our task team consists is developing a campaign that is two an HDSA advocate, please register today
HDSA is pleased to be an endorsing
brighten up a family caregiver’s day. • Offer to prepare a holiday dinner for a of 6 volunteers – a person who is at risk, pronged – drafting a federal piece of so we can keep you up to date with the
organization and a part of the campaign
caregiving family in your community, so one who is living with HD, a person who legislation that will combine both task team’s progress. Complete the form
to bring attention to the needs of family • Offer to help with home repairs or
they can just relax and enjoy the day. ■ is gene positive but not yet symptomatic, a objectives (re-classification and the below or go online to register today.
caregivers. Here are some ways that you indoor house cleaning or encourage a waiver) for introduction in the new Together, we can achieve this goal. ■
can help a caregiver: local business to donate these services.
Please help us update our records.
For more information visit: www.thefamilycaregiver.org or call 800-896-3650.
Do you give at work? most respected charities, partner together
to offer workplace giving in companies
If your employer does not currently offer
a workplace giving campaign, and you
If you are not currently a member of our emailing list, or if your
email may have changed recently, please contact HDSA so you
Visit the Advocacy page of our website (www.hdsa.org then click
on Advocacy/Become an Advocate) to join or send an email to
across the country. would like to find out more about how can be added to our e-list serve to receive late-breaking news, Robert Coffey at coffeyr@hdsa.org with “update my contact info”
The fall season is often when corporations
you can start one, please contact Alex HD community updates, and advocacy action alerts. in the subject line.
and the government conduct what is called If your employer conducts a workplace
Roque at HDSA by calling 800-345-4372
a workplace or employee giving campaign. giving campaign and includes Community
ext. 233.
This is when an employer makes it easy for Health Charities as a partner, you can Name: ____________________________________________________ Address: ________________________________________
its employees to dedicate dollars from their make a difference in someone’s life today HDSA has a new Community Health
regular paycheck and donate them to the City: ______________________________________________________ State: ________________ Zip: _____________________
by designating your contribution to HDSA. Charities and Combined Federal Campaign
charity or charities of their choice. Through Federal employees can donate to HDSA number! Please be sure to use 11238 to Evening Phone: _____________________________________________ Email: __________________________________________
Community Health Charities, HDSA, along through the Combined Federal Campaign designate contributions to the Huntington’s
with a family of nearly 50 of America’s by using the CFC code 11238. Disease Society of America. Are you currently receiving emails from HDSA? (circle one) [ yes ] [ no ]
Please return this form to HDSA using the envelope provided in this magazine or email Robert Coffey at coffeyr@hdsa.org.
20 WINTER 2007 | HDSA.ORG Huntington’s Disease Society of America
21
H u nti ng to n’s D i sea se S o c i ety o f A m er i c a
resource directory
Resource Directory resource directory
Resource Directory
A Guide to HDSA’s
MID-ATLANTIC REGION GREAT LAKES REGION Arkansas Affiliate* NORTHWEST REGION
(DE, PA, WVA, VA, MD, WASH DC) (MI, IN, OH, KY, WI, MO) Kansas Affiliate* (WA, OR, ID, MT)
(ST. LOUIS ONLY) Contact Janice Watsky
Chapters and Affiliates
HDSA Chapters Scotti Hutton
HDSA Regional Development Director
Delaware Valley Affiliate* Melissa Worthington HDSA National Development
Tel: 504-712-0523 or
New Freedom Affiliate* HDSA Regional Development Director 800-558-3370 Director West
Contact 610-260-0420 Tel: 262-560-0494 Email: jwatsky@hotmail.com Tel: 720-981-7577
HDSA has placed professional staff in NEW ENGLAND REGION Email: mworthington@hdsa.org Email: shutton@hdsa.org
Delaware Valley Chapter Texas Affiliate
strategic locations across the country (CT, ME, MA, NH, RI, VT) HDSA Chapters www.hdsatexas.org HDSA Chapters
Tel: 610-260-0420 or
to provide assistance in fund raising, Contact Virginia Goolkasian (toll free) 877-384-3721 Central Ohio Chapter HDSA Center of Excellence at Baylor Northwest Chapter*
awareness, education and care HDSA Regional Development Director www.dvhdsa.org Tel: 866-877-HDSA (4372) or College of Medicine (see page 24) Tel: 206-464-9598 or
Tel: 978-454-8102 or 614-460-8800 888-264-4372
initiatives offered by HDSA in Delaware Chapter www.hdsacentralohio.org
(toll free) 888-554-8102 UPPER MIDWEST REGION Email: nwhdsa@yahoo.com
support of HDSA’s mission. Tel: 877-384-3721 www.geocities.com/nwhdsa
Email: virginia@hdsa-ne.org Indiana Chapter (ND, SD, NE, MN, IA, IL)
Maryland Chapter Tel: 317-271-0624 or HDSA Center of Excellence at University
Regional Development Directors are HDSA Chapters Tel: 800-416-4372 Leigh Peterson
(toll free) 866-488-0008 of Washington (see page 24)
responsible for the states listed Connecticut Affiliate* www.hdsaindiana.org HDSA Regional Development Director
Washington Metro Chapter
including all chapters, affiliates and Maine Affiliate* Tel: 703-204-4634 or Tel: 763-502-1407 NORTHERN CALIFORNIA REGION
Kentucky Chapter Email: lpeterson@hdsa.org
HDSA Centers of Excellence within New Hampshire Affiliate* 703-323-1403 (NO, CA, NV)
Tel: 502-637-4372 or
Rhode Island Affiliate* HDSA Chapters
that region. Regional Development Western Pennsylvania Chapter 800-784-3721 Penny Riley
Vermont Affiliate* Email: hdsakychapter@bellsouth.net
Directors work directly with HDSA Tel: 412-833-8180 or Illinois Chapter HDSA Regional Development Director
Massachusetts Chapter* 888-779-HDSA (4372) Michigan Chapter Tel: 630-443-9876 Tel: 916-927-4400
volunteers to maximize local resources Contact Virginia Goolkasian www.hdsawpa.org Tel: 989-832-4170 or www.hdsa-il.com Email: priley@hdsa.org
and efforts in the care and cure of HD. HDSA Regional Development Director HDSA Centers of Excellence at Johns 800-909-0073 Iowa Chapter HDSA Chapters
www.hdsa-ne.org Hopkins and The University of Virginia http://hdsa-mi.com
Information changes constantly. Please Tel: 866-248-IAHD (4243) or
New England HDSA Center of Excellence Health Sciences (see page 24) 712-542-4976 Northern California Chapter
Northeast Ohio Chapter
contact HDSA at 800-345-HDSA for (see page 24) Tel: 916-734-6277
Tel: 440-423-HDSA (4732) Minnesota Chapter www.hdsanortherncalifornia.org
updated information or go to the HDSA SOUTHEAST REGION
GREATER NEW YORK REGION Ohio Valley Chapter Tel: 612-371-0904
national website at www.hdsa.org (NC, SC, AL, GA, FL) HDSA Center of Excellence at University
Tel: 513-741-HSDA (4372) www.hdsa-mn.org
(NY, NJ, FAIRFIELD COUNTY, CT) of California, Davis Medical Center
and click on “community” and then HDSA Chapters Sioux Valley Chapter (see page 24)
St. Louis Chapter
“HDSA near you.” ■ Chenell Tannure North Carolina Chapter Tel: 605-334-9917
Tel: 314-961-4372 or
HDSA Special Events Coordinator 866-707-4372 SOUTHERN CALIFORNIA REGION
Contact Worth Bolton HDSA Centers of Excellence at Rush
Tel: 212-242-1968 ext. 221 Email: pcribbin@hdsa.org (SO. CA, S. NV)
www.hdsanc.org University Medical Center (IL), Hennepin
Email: ctannure@hdsa.org
HDSA NATIONAL DEVELOPMENT Georgia Chapter Wisconsin Chapter County Medical Center (MN) and The
Lisa Gaetje
MANAGER–EAST HDSA Chapters Tel: 414-257-9499 or
University of Iowa Hospitals and Clinics
Tel: 770-729-9207 HDSA Regional Development Director
(see page 24)
Long Island Affiliate* www.hdsa-ga.org 877-330-2699 Tel: 866-920-0601
Alex Roque
New York Metro Affiliate* www.hdsawi.org Email: lgaetje@hdsa.org
HDSA National Office Central Florida Affiliate ROCKY MOUNTAIN REGION
Tel: 212-242-1968 ext. 233 Contact Chenell Tannure HDSA Centers of Excellence at Ohio
Contact Karen Milek (NM, UT, WY, AZ, CO) HDSA Chapters
Email: aroque@hdsa.org State University, Indiana University
New Jersey Chapter Tel: 407-719-2291 Greater Los Angeles Chapter
and Washington University School HDSA Chapters
Tel: 609-448-3500 www.huntingtonsorlando.org
of Medicine (see page 24) Tel: 888-4-HDSA LA or
FIELD ADMINISTRATIVE Email: crokicki@hdsa.org Arizona Affiliate
South Florida Chapter 800-686-9868
COORDINATOR www.hdsanj.com Tel: 305-274-7411 Tel: 888-267-3411 (AZ only)
SOUTHWEST REGION Orange County Affiliate
Megan Bonstein www.huntingtonsdiseasefl.org Email: HDSA_AZ@hotmail.com
Upstate New York Chapter (TX, OK, LA, MS, AR, KS, TN, MO) Contact Lisa Gaetje
HDSA National Office Alex Roque Alabama Support Group (EXCEPT ST. LOUIS) Rocky Mountain Chapter
HDSA Regional Development Director
Tel: 212-242-1968 ext. 218 Tel: 212-242-1968 ext. 233 Tel: 205-325-3877 Tel: 303-321-5503 or
Email: mbonstein@hdsa.org Janice Watsky 877-740-HDSA or 303-837-9937 Tel: 866-920-0601
www.hdsauny.org HDSA Centers of Excellence at Emory Email: lgaetje@hdsa.org
HDSA Regional Development Director www.hdsarockymountain.com
HDSA Centers of Excellence at University University, University of Alabama
HDSA NATIONAL DEVELOPMENT of Rochester, Columbia Health Sciences/ Tel: 504-712-0523 or HDSA Center of Excellence at Colorado San Diego Chapter
Birmingham and The University of
DIRECTOR–WEST 800-558-3370 Neurological Institute (see page 24) Tel: 800-473-4014 or
NYS Psychiatric Institute and North Shore South Florida (Tampa) (see page 24)
Email: jwatsky@hotmail.com 760-752-1844
Scotti Hutton University Hospital (see page 24)
www.hdsasandiego.org
Tel: 720-981-7577 HDSA Chapters
HDSA Centers of Excellence at University
Email: shutton@hdsa.org Oklahoma Chapter* of California Los Angeles and The University
Tel: 405-236-4372 or 877-232-4372 of California San Diego (see page 24)
Email: okhdsa@sbcglobal.net
www.okhdsa.com
22 WINTER 2007 | HDSA.ORG Hu n ting ton ’s Disease S ociety of America
23
H unt ing ton’s Disea se Soci ety o f Am erica
resource directory
Resource Directory researc h
HDSA Research
Centers of Excellence Centers of Excellence: Hot Topics
º
• The HDSA Center of Excellence at • The HDSA Center of Excellence at the specimens from people with HD. These
the University of Iowa is working in University of California Los Angeles is revealed that the activity of complexes
HDSA Center of Excellence program NEW ENGLAND SOUTH/SOUTHWEST REGION collaboration with the JHD working conducting a pilot phase II double blind, II, III, and IV of the mitochondrial electron
serves as the cornerstone of HDSA’s New England HDSA Center of Excellence HDSA Center of Excellence at Baylor group of the European HD Network in placebo controlled study of the safety transport system is reduced in the
commitment to care. These 21 facilities Charlestown, MA College of Medicine, Houston, TX a project called JHD Registry/Natural and tolerability of Curcumin C3 Complex striatum thus suggesting that reduced
Tel: 617-726-5532 Tel: 713-798-3951 History Study to obtain data and vital in patients with mild to moderate HD. cerebral oxidative phosphorylation may
provide a vast array of medical and
information from JHD families in an effort In a second study, they are looking at be important in the pathogenesis of
social services to HD families nationwide to modify rating scales so they are more whether there are EEG abnormalities neuronal death.
GREATER NEW YORK REGION MIDWEST REGION
and work in collaboration with HDSA suitable for monitoring the disease in HD.
HDSA Center of Excellence at the HDSA Center of Excellence Washington
chapters, affiliates, regions and support progression in juvenile onset HD. They • The HDSA Center of Excellence at
University of Rochester, Rochester, NY University School of Medicine, St. Louis, MO
groups to form a seamless national are also working on a qualitative study • The HDSA Center of Excellence Ohio State University is conducting
Tel: 585-273-4147 Tel: 314-362-3471
(JHD Qualitative Study) that builds on at Baylor College of Medicine a gait study. Individuals with HD are
network of resources and referrals for HDSA Center of Excellence at Columbia a similar study conducted in the UK to is working on a study to determine commonly prescribed ambulatory
those affected by HD and their families. Health Sciences/NYS Psychiatric Institute, UPPER MIDWEST REGION
identify the needs of individuals and whether tetrabenazine helps people assistive devices such as canes and
New York, NY HDSA Center of Excellence at Hennepin families affected by JHD. with HD with balance, walking and hand walkers to prevent falls. However, there
HDSA Centers of Excellence also offer Tel: 212-305-9172 County Medical Center, Minneapolis, MN
This Center is also conducting a clinical function. This pilot study will provide are no standardized clinical guidelines
family members the opportunity to be a Tel: 612-873-2595 (new appointments)
George G. Powell HDSA Center of trial (CIT-HD) for individuals who are preliminary data regarding this issue but for prescription of such aides for people
part of the search for effective treatments 612-873-2515 (appointments)
Excellence at North Shore not currently taking anti-depressant it is also a test of several measurements with HD and limited knowledge about
612-873-2522 (nurse line for est. patients)
and a cure through clinical trials. As University Hospital, Great Neck, NY medications, who notice mild changes of function to see if they are a sensitive the influence of the various devices
Tel: 516-570-4477 HDSA Center of Excellence at University measure and could be of use in future on a person’s gait pattern. This
research advances, there will be a in their thinking ability and who are
of Iowa, Iowa City, IA clinical trials. study compares the biochemical
greater need for individuals who want diagnosed with HD. The trial evaluates
MID-ATLANTIC REGION Tel: 319-353-4307 characteristics of gait in terms of
Citalopram (or Celexa) effects on HD.
to be a part of finding the answers. To spatiotemporal gait measures (i.e.
HDSA Center of Excellence at Rush Contact the Center for more information. • The HDSA Center of Excellence at the
find out more about clinical trials in your HDSA Center of Excellence at Johns Hopkins velocity, cadence, stride length, and
University Medical Center, Chicago, IL University of South Florida conducted a
University/Hospital, Baltimore, MD duration) and kinematic measures of
area, contact your Center of Excellence. Tel: 312-563-2900 • Also at the HDSA Center of Excellence study on predicting health and quality of
Tel: 410-955-2398 trunk sway while study participants
at the University of Iowa a QOL in HD life for family caregivers of persons with
Each HDSA Center of Excellence receives HDSA Center of Excellence at ROCKY MOUNTAIN REGION HD. They found no direct relationship with HD use four different types of
survey project is being conducted to
an annual grant of $50,000 from HDSA. University of Virginia Health System between stress and caregiver well being canes and walkers. Contact the
HDSA Center of Excellence at Colorado develop a scale of quality of life measures
Charlottesville, VA and that the impact of stressors was Center for more information.
These grants are funded through the Neurological Institute, Englewood, CO in order to determine the effectiveness
Tel: 434-924-2665, Helpline: 866-290-4528 and efficacy of treatments, particularly moderated by appraisals and protective
support patient and family service Tel: 303-768-4600
from patient and caregiver perspectives. factors. Seventeen family caregivers
programs. These annual grants are SOUTHEAST REGION were interviewed and completed scales
NORTHWEST REGION Surveys will be open to pre-symptomatic
funded through special events organized HDSA Center of Excellence at individuals, symptomatic HD persons to measure stressors, appraisals,
HDSA Center of Excellence at University
by HDSA chapters, regions, volunteers Emory University, Atlanta, GA and caregivers. protective factors and outcomes.
of Washington, Seattle, WA
and friends who recognize the important Tel: 404-728-6364
Tel: 206-598-4030 Eye Tracking is a study designed to
role that these Centers of Excellence HDSA Center of Excellence at University • The HDSA Center of Excellence at
utilize advanced eye-tracking methods
of Alabama, Birmingham, AL NORTHERN CALIFORNIA REGION Washington University School of
play in providing help to our families. to establish a biomarker for HD by
Tel: 205-996-7865 Medicine (MO) conducted two unique
To find out more about fund raising HDSA Center of Excellence at University investigating subtle motor and cognitive
studies that looked at mitochondrial
HDSA Center of Excellence at of California Davis Medical Center eye tracking problems in people at risk
events in your area, please visit electron transport system (ETS) activity
University of South Florida, Tampa, FL Sacramento, CA for HD.
the HDSA website and click in people with HD. The first found no
Tel: 813-974-6022 Tel: 916-734-6278 Atomoxetine & HD is a clinical trial for statistically significant differences in
on “Community”. individuals who have concerns about platelet citrate synthase, complex I or
GREAT LAKES REGION SOUTHERN CALIFORNIA REGION attention and focus and are diagnosed complex I/III though there was a highly
Information changes constantly. Please
HDSA Center of Excellence at Ohio State HDSA Center of Excellence at University with HD. The trial evaluates atomoxetine statistically significant reduction in striatal
visit www.hdsa.org and click on (or Strattera) effects on HD symptoms.
University, Columbus, OH of California, Los Angeles, CA volume in participants with HD compared
“Getting Help” and then “Centers of Tel: 614-688-8672 Tel: 310-794-1225 Please contact this Center of Excellence with normal control participants. The
Excellence“ to obtain the most current for more information on this clinical trial. second study examined postmortem
HDSA Center of Excellence at Indiana HDSA Center of Excellence at University
contact information. ■ University School of Medicine of California, San Diego, CA
Indianapolis, IN Tel: 858-622-5824
Tel: 866-488-0008
24 WINTER 2007 | HDSA.ORG Hu nti ng ton ’s Di sease Society of Am er i ca
25
Hunti ngton’s Di sea se Society of A meri ca
HDSA anniversary
40th 40th Anniversary HDSA anniversary
40th 40th Anniversary
Concert to Celebrate Eleventh Annual Dinner Celebrates
Woody and Marjorie Guthrie Huge Success Lives of Woody and Marjorie Guthrie
T
his year marked the 40th recipients of the Marjorie Guthrie
anniversary of the passing of Leadership Award for their concern for
legendary folk singer Woody the health and well being of those
Guthrie and the founding of what has affected by HD; Donald Barr who
become the Huntington’s Disease received the HDSA National Community
Society of America. Friends, family and Service Award in recognition of his
patrons gathered in the Starlight Room leadership and support of HDSA and
at the Waldorf=Astoria on Thursday, its at risk youth; and Joan Baez who
October 18, for an evening of music, received the Woody Guthrie Award for
pageantry and fun. Several generations her support of social and political causes
of the Guthrie family came together to around the world.
Mary White, Anna Canoni, Barbara Boyle, celebrate the event that honors Woody
Live auctions of limited edition prints
Laura Gaffney, Tony Lechich, Nora Guthrie and and Marjorie Guthrie. From Oklahoma,
Claudia Marshall. donated by Tony Bennett and Mary Jo
Grand Finale with Billy Bragg, Steve Earle, The Tangents, Stone Gossard and Brad, Tim Robbins with Liz Weber, HDSA welcomed Mary Jo Edgmon,
Edgmon added excitement to the evening
Tom Morello and Tim Robbins. HDSA Northwest Chapter. current matriarch of the family and
and, with a silent auction, raised more
“baby sister” of Woody, who attended
F
than $16,000. Special thanks to John
rom the welcoming words of host the driving force behind the concert. everyone back on stage for the big finale. with her niece Marie Nunley and grand
Mellencamp, Jason Ritter, Marianna
Tim Robbins to the penultimate Liz thanked the artists and reminded Tom Morello (Rage Against the Machine), nieces Karen Nunley and Le-Anna Davis.
Palka, Mary Jo Edgmon, Howard Lederer,
version of “This Land Is Your Land” everyone that we were together for explained to the audience that it was Also making their first appearances with
Bob Pearson, Dr. Jim Gusella, and the
that had the entire house singing and two purposes – to raise funds and to be an interactive, sing-along, their mothers, Anna (daughter of Nora)
numerous sponsors and co-chairs that
jumping to the beat, the First Annual awareness for HD – and to have a good dance-along, tribute to Woody, and and Sarah Lee (daughter of Arlo), were
made the evening such a success. As a
Celebration of Woody and Marjorie time. Over the next three-and-a-half hours led the assembled all-star band (featuring two great-granddaughters of Woody and
result, more than $125,000 was added
Guthrie to benefit HDSA was a both objectives were accomplished. Stone Gossard (Pearl Jam), Billy Bragg, Marjorie – Kaylee and Sophia.
to the Woody and Marjorie Guthrie
rousing success. Steve Earle, Robbins, members of Brad
Nora Guthrie, Anna Canoni and Nora Guthrie and her daughter Anna Research Fund which directly supports
and the Tangents) in a passionate
Nearly one thousand celebrants packed members of the extended Guthrie served as Chairs of the event. Claudia the HDSA pipeline for drug discovery.
driving version of the Guthrie classic, The Oklahoma Guthrie’s: Mary Jo Edgmon and
Webster Hall, in New York City on family were on hand to participate Le-Anna Davis (seated) with Karen and Marshall, host of City Folk Morning Since the very first Guthrie Awards
“This Land,” including all of the original
Wednesday, October 17. Some were in the evening’s celebration. Marie Nunley (standing). heard daily on WFUV radio, reprised Dinner, which honored Drs. Anne Young
verses, and a few improvised on the spot.
there to support HDSA; others were her role as Mistress of Ceremonies. The and Ira Shoulson and folk singer/activist
The Tangents provided the first upbeat
there for the music, but all left with Given the success of the event, plans dinner honored individuals in the areas Arlo Guthrie in 1997, more than $1.4
set. They were followed by Tim Robbins
an appreciation of what Woody and are underway for future concerts. ■ of medicine, research, community million has been raised in support of
and Friends, who interpreted several of
Marjorie had contributed to the country service and entertainment. HDSA funded research.
Woody’s chestnuts. Next up was Brad,
and our cause; and an appreciation for
in their first public performance in three “...all left with an We congratulate the James F. White HD Now more than ever, the answers are
the way in which the HD community
years. Steve Earle and Billy Bragg each Unit at Terence Cardinal Cooke within reach. Please consider making
can pull together to raise funds
contributed their own rousing sets, full
appreciation of what Healthcare Center on receiving the your donation today to support HDSA
and spirits.
of Guthrie and Guthrie-esque tunes, Woody and Marjorie Guthrie Family Humanitarian Award for and the pipeline for drug discovery. ■
Tim Robbins set the tone for the evening which had the crowd begging for more. their dedication and compassionate care
when he introduced Liz Weber, President had contributed to the of people with HD and their families;
After auctioning off a guitar signed by
of the Northwest Chapter of HDSA, and Alexis Borisy and CombinatoRx,
all of the performers, Robbins invited country and our cause...” Don Barr with Barbara Boyle, Nora Guthrie,
Anna Canoni, Claudia Marshall and
members of the NYA.
26 WINTER 2007 | HDSA.ORG Hu n ti n g ton ’s Di sea se Soc iet y of Am eri ca
27
H u nti ng to n ’s Di s ea s e So ci e ty of A me ri ca
ways to give
Ways to Give ways to give
Ways to Give
There are many ways There are many ways for you to
make your contribution to HDSA:
Appreciated Stocks and/or Mutual
Funds – earn a charitable tax deduction
Use your
for you to make your contribution to HDSA Please visit our website, www.hdsa.org,
for the full fair market value of the gift
IRA in the
while you lower your capital gains taxes.
and click on “To Make a Donation to HDSA
Click Here!” This will take you to a secure Life Insurance – the donation of a life
H fight to
DSA is an organization that complements work being performed • HDSA Chapters and Affiliates work page where you can make a direct dona- insurance policy will earn you an income
strives to make every dollar by the HDSA Coalition for the Cure. in tandem with HDSA Centers of tion to HDSA. If you prefer, you can print tax deduction equal to the lesser of the cash
count. Your generosity has
allowed us to develop programs that
• CHDI, our partner in the translational
phase of research, investigates how
Excellence to provide access and
information about community-based
out the gift form and mail it to: HDSA,
505 Eighth Avenue, Suite 902, New York,
value of the policy or total premiums paid.
Real Estate – a gift of a property that is
end HD.
positively impact the lives of people services and support. NY 10018, or fax it to 212-216-9004.
basic research and early translational/ fully paid off will allow you to remove
with HD. With your continued support Using your IRA in planned giving
preclinical research findings can be • HDSA Social Workers work with You may choose to establish a Family that asset from your taxable estate. You
we will expand these programs to help may have advantages for your
applied to developing substances that HDSA Chapters and HDSA Centers Fund to honor your family or to can then deduct the fair market value
the ever-increasing population of heirs as well as your charity of
will slow the progress or prevent HD. of Excellence to ensure that HD remember a loved one. Join with friends of your gift while avoiding all capital
people with HD. choice. That is because funds
families receive services to which and relatives, and pool your resources, gains taxes on the property. You can
• CHDI and the Huntington Study from an IRA can be designated for
HDSA puts your donations directly to they are entitled. to make your donated dollars work transfer the deed of your home or farm
Group are our partners that carry out a charitable organization without
work, fulfilling the three objectives of harder than you could individually. to HDSA now and retain the right to use
clinical trials of potential treatments • HDSA Support Groups provide the triggering income, estate or
our mission statement: the property for your lifetime and that of
in humans. HD community with critical emotional Other options include an HDSA transfer taxes. Using your IRA for
your spouse.
support as well as serve as an outlet Tribute Gift: honor a friend or relative; charitable purposes can be a tax
To find a cure for HD
To care for and help people for resources and referrals. or an HDSA Memorial Gift: honor the For more information on the donation smart bequest – freeing you to
by funding:
with HD and their families by memory of a loved one. of these financial instruments or programs, give less heavily taxed assets, such
• HDSA Coalition for the Cure creating and funding: To educate the public and please contact Leah Donnelly at the as cash, securities and real estate,
Your employer or organization may be
investigators, who focus on basic healthcare professionals HDSA National Office, 800-345-HDSA to your family members.
• HDSA Centers of Excellence – 21 part of the HDSA Matching Gifts Program,
and preclinical research to identify about HD by developing (4372) ext. 217.
In addition, under the Pension
specialty clinics at major medical which doubles your donation. A list of
and understand the bio-mechanisms and distributing: Protection Act of 2006, you can
facilities located throughout the participants is available on our website. Please visit our website regularly and
that cause HD.
United States where people with • Materials that create awareness If your employer is not part of this program, browse the HDSA Marketplace. even use your IRA to make
• HDSA Grants and Fellows are the HD and their families receive quality about HD for both the public and we would be happy to help enroll your Purchasing our Care2Cure Bracelets, charitable gifts during your lifetime,
next generation of HD investigators. medical care, social services and government sectors. company or organization. It’s another 40th Anniversary Bracelets, holiday without negative tax effects. Under
Research funded through this program support. HDSA Centers of Excellence way for you to help HDSA, now, and cards, amaryllis plants and other the act, you can transfer up to
• Informational publications for people
provides new insights into HD and are also focal points for clinical trials in the future. merchandise makes a difference – $100,000 directly to a charitable
with HD and their families.
and genetic testing programs. and helps us build awareness at the organization such as HDSA. There
In addition to these cash gifts, you can are two requirements, however:
• Professional publications and seminars same time.
participate in our Planned Giving Program you must be 70 years of age or
for the healthcare community.
that includes the HDSA Heritage Club You can also make a valuable donation
older and you must complete the
• Regional and national seminars, for persons remembering HDSA in their by offering your time, your skills, your
transfer before December 31, 2007.
conferences and conventions for HD wills; life income Charitable Remainder knowledge to a local HDSA chapter. In
families and medical professionals. and Annuity Trusts; and Charitable the past year, volunteers have helped Consider designating funds from
Bequests. Other financial instruments upgrade chapter websites, videotaped your IRA for the fight against HD.
• National website (www.hdsa.org)
that can be used for donations are: Center of Excellence patients and provided Through careful planning, you
that provides information to the world
other support services to chapters and can make a generous gift while
wide HD lay and professional medical IRA – funds from an IRA can be ensuring that your heirs receive
affiliates, in addition to helping organize
community about new advances in the designated to HDSA with no negative
events and participating in HDSA activities. assets with the least tax exposure.
care and cure of Huntington’s Disease. tax effects. If you are 70 ½ years of age Be sure to get expert advice when
or older, you can transfer up to $100,000 The Cure is within reach. Please help us
• Referral services for people with HD contemplating your options. ■
to HDSA prior to December 31, 2007 reach this goal, and continue to make a
and their families.
to receive the tax credit this year. difference in the lives of every person
Please see sidebar for more details. with HD. ■
28 WINTER 2007 | HDSA.ORG Hu n ti n g ton ’s Di sea se Soc iet y of Am eri ca
29
H u nti ng to n ’s Di s ea s e So ci e ty of A me ri ca
ways to give
Ways to Give
Welcome to the HDSA Marketplace Kim Quaid (HDSA Center of
World Congress... as there is a probability that results can
—continued from page 11. Excellence at Indiana University) vary +1 or -1 in the CAG repeat length
discussed results from the PHAROS and this variance can have a significant
Andrea Ciarmiello (Italy) presented observational study on factors associated impact on individuals who have been
a study which demonstrated the loss of with pursuing genetic testing. Over 90% given results of CAG repeats of 36-39.
grey and white brain matter with disease of individuals enrolled in PHAROS
There are so many new ways that Guthrie. Purchase your tee shirt today for Don’t forget to order your “Winter progression and a loss of grey matter in Douglas Langbehn (University of
chose not to be tested during the study,
you can support HDSA every day. just $25 plus shipping and handling. Cabin” Holiday Cards: [E] and send individuals who are gene positive and Iowa) presented data to validate CAG-
stating medical and societal concerns as
your message of support and good wishes asymptomatic. Spinal fluid also showed based age of onset using data from the
Items change constantly so check Woody and Marjorie Guthrie barriers to testing.
to your friends, family and business an increase in white matter and a PREDICT observational study. A useful
the Marketplace often. All proceeds Concert Poster: [B] Own a limited
associates this season. Each box is $35 decrease in grey matter. Yvonne Bombard (Canada) found that model was derived that expresses the
benefit HDSA’s research, care and edition poster of this incredible concert
(includes shipping and handling) and 93 out of 167 individuals participating in relationship between an individual’s
education programs. If you have that took place in New York’s famed Nicola Hobbs (UK) talked about
HDSA receives 40% of the price of your her study reported genetic discrimination CAG repeat length and the probability
Webster Hall for just $20 plus shipping whether an increased caudate atrophy
any questions, please contact cards to benefit our programs. Visit our in reference to life insurance, disability that the disease will manifest by a
and handling. rate could serve as a biomarker in early
Mynelly Perez at ext. 214 or Marketplace Holiday Store today and insurance, making reproductive decisions certain age.
HD. Researchers used the caudate and relationships. Genetic testing did
email mperez@hdsa.org. place your order to guarantee delivery
Holiday Items – New for 2007 boundary shift integral (CBSI) and Lucienne van der Meer (Netherlands)
in time for the holidays. not increase the risk of discrimination
found a significant difference between presented a study that found a correlation
Ways to Show Your Support of HDSA 40th Anniversary Awareness as much as knowing family history at
pre-manifest and early HD. between aspects of personality,
HDSA Every Day Bracelet: [C] This exclusive bracelet Other Services an early age.
psychological and social characteristics
was designed to celebrate HDSA 40th A. Weindt (Germany) posed that
Care2Cure Bracelet: Our blue Flowers: FlowerPetal, an international Claudia Licklederer (Germany) spoke and early symptoms of HD, with certain
anniversary. The four large Swarovski striatal atrophy in HD is leftward bias.
Care2Cure bracelet is great for walks, web florist, can help you solve your about the long term effects of predictive personality types more likely to exhibit
crystals represent each decade that we He looked at handedness in men and
hoops or any event where people gather gift needs with fresh flowers, gift sets testing on mental health and quality of cognitive symptoms and others to
have fought to better the lives of those women and found a greater decrease in
to support HDSA. Bracelets are $2 each and more. HDSA receives 12% of your life, as individuals with HD have a lower express behavioral symptoms.
affected by HD. The bracelet is accented grey matter on the left side of the striatum.
and sell in lots of 10 (10/$20). purchase and, as a supporter of HDSA, quality of life and more depression than
in Swarovski pearls and sterling silver. All participants were right handed. Sheila Simpson (UK) spoke about a
there is no charge for flower delivery control or gene positive participants,
HDSA Circle of Hope Necklace: Each bracelet is $40.00 and 100% of project that has been launched by the
(a $10 savings). Please visit FlowerPetal Wim Vandenberghe (Belgium) studied mainly due to a lack of social networks.
Share your message of hope with this the net profits benefit HDSA programs. Euro HD network to develop a standard
today at http://hdsa.flowerpetal.com. cannabinoid type 1 receptor (CB1),
stylish necklace that features the words Reinier Timman (Netherlands) set of guidelines for care for those
which is needed to signal behavior,
“HDSA Circle of Hope” on one side and Old Favorites FTD: When you purchase through FTD presented a spreadsheet created to aid affected by HD.
maintain weight and moderate other genetic counselors in assessing risk
“Cure Huntington’s Disease” on the other. HDSA will receive a 15% donation at
Amaryllis: [D] Each amaryllis comes functions, as a potential biomarker for Martha Nance (HDSA Center of
Wear it on either side. The necklace is the end of the year. To order flowers for HD without a genetic test, using
packaged to grow. Just unwrap, water HD, but found no useful correlations. Excellence at Hennepin County Medical
available for $7.50 each or 2 for $10. or other FTD products, please go to current age, length of CAG repeat in
and watch. This year, there are five colors. Center) presented on end of life care
www.ftd.com/hdsa or call 1-800-SEND Robert Wolf (Germany) studied working close relatives, information on age at
Woody and Marjorie Guthrie At $10 each, buy one in every color! and hospice, looking at HD patients who
FTD and mention code #3015 when memory dysfunction in pre-symptomatic onset, or pre-symptomatic or prenatal
Concert Tee Shirt: [A] Be a part of Purchase your amaryllis kits online at the had died in one nursing facility between
purchasing. ■ HD using reaction time. There was no test results of their tested children and
HDSA’s 40th Anniversary inaugural Marketplace (deadline December 15) or 2000 and 2006. The data suggests that
difference between control participants other information.
concert in honor of Woody and Marjorie from your HDSA chapter and affiliate. a large proportion of HD patients have
and presymptomatic individuals, although Carsten Saft (Germany) presented case distressing terminal symptoms which
there was evidence of a significant data on the influence of modifier genes may benefit from palliative care.
decrease in the left dorsolateral prefrontal with environmental factors that could
cortex with the gene present. Sarah Tabrizi (UK) examined changes
result in HD manifestation with 34 CAG
in those with pre and early HD over a
Matthieu Robert (UK) presented a study repeats. The case was confirmed with a
two year period, using measures that
of eye movements in pre-symptomatic CCT scan.
included imaging, eye movement, quality
E people which may serve as a functional Oliver Quarrell (UK) spoke about of life, motor and cognitive assessments,
C biomarker of HD. the need for quality control and wet markers and neuropsychiatric
standardization across testing facilities,
B
D —continued on page 32.
A
30 WINTER 2007 | HDSA.ORG H u nt i ng t o n’s D i s e a s e S o c i e t y o f A me r i c a
31
H u n t i n g t o n ’s D i s e a s e S o c i e t y o f A m e r i c a
5th Annual Phyllis E. Dake... model to test the compound on, and The research supported by HDSA
—continued from page 5. determine dosing and timing before and presented at the Dake Research
clinical trials on humans can begin. Symposium is expanding our
familiar compounds, such as creatine
Dr. Hersch is working in developing understanding of the basic processes
and coenzyme Q10, which may have
new biomarkers that can indicate if a of HD. Your continued support for the
general effects on energy and oxidation,
drug is working. For example, brain size/ work of the HDSA Coalition for the
and focusing on increasing their
shrinkage has been identified as a Cure is vital to the scientific selection
specificity and potency. Novel
biomarker that can be assessed using of targets for therapies that underlies
compounds identified by assay are also
non-invasive imaging techniques. The HDSA’s entire drug discovery pipeline. ■
being investigated, but this is an arduous
ability to use this as a biomarker shaved
process. The researcher must determine
5-6 years off the time required for
whether the activities altered by the
creatine to move forward in
compound are a big piece of HD
clinical trials.
pathology, choose the correct mouse
World Congress... results indicated that motor function and Ruth Walker (Mount Sinai School of
—continued from page 31. gait improved while chorea decreased Medicine) gave a video presentation on
with almost no adverse side effects, with the disorders HDL2, McLeod Syndrome
assessments. These will be used to assess a strong trend towards improvement in and chorea-acanthocytosis that mimic
the effects of drugs in these groups. symptoms of anxiety and depression. HD and can complicate diagnosis.
David Crauford (UK) gave a Diana Rosas (Massachusetts General D.D. Rudnick (Johns Hopkins) gave
presentation on treating sleeplessness, Hospital) presented data on a high-dose a short presentation on HDL2 and
irritability and apathy and concluded creatine study of 10 individuals. As the discussed how a better understanding
that there is no evidence to determine dosage increased, the benefits of the of the potential points of convergence
which are the most effective drugs for treatment decreased. After several weeks, between HDL2 and HD could help to
persons with HD. it was determined that 30 gr. of creatine direct targets for therapies.
Leigh Beglinger (University of Iowa) was the optimal dosage to reduce weight
Hans Jung (Switzerland) discussed
gave a presentation on the use of loss, slow loss of motor skills, reduce the
another disease that mimics HD –
Atomoxtine to enhance executive formation of aggregates in the brain and
McLeod’s Syndrome. The study concluded
function and attention in early HD. reduce oxidative stress.
that while McLeod’s Syndrome is a
This ongoing study began in May ‘07 Kevin Biglan (University of Rochester) progressive multi-system disorder similar
and will conclude in mid 2008. presented a study proposing the to HD, the brain pathology is not
Ray Dorsey (University of Rochester) examination of the effectiveness of three similar to HD.
presented the results of the Miraxion dosages of CoQ10 (600, 1200 and 2400
Events such as the World Congress
study (ethyl EPA) in both North America mg./day) in pre-manifest individuals in
showcase the benefits of collaboration
and Europe. Though the initial results order to establish the optimal dose that
and the sharing of information as keys
showed that the drug was safe and could be used to prevent onset.
to advancing therapies. The breadth of
well tolerated, there was no statistical Adrienne Curtis (UK) reported on clinical investigation presented at the
significance at 6-months and the twelve the use of Nabilone in a pilot study. Congress is an indication of the HD
month data has not yet been released. Over a two year period, this synthetic community’s dedication to rapidly
Joakim Tedroff (Sweden) gave a cannabanoid was shown to reduce developing therapies to treat the
presentation on the use of ACR16, a new movements and improve mood. A symptoms of the disease and to
dopamine stabilizing drug. In a phase 2 larger scale trial may be scheduled. ultimately find a cure. ■
open label study in Scandinavia, the
32 WINTER 2007 | HDSA.ORG
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