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					euro-                                             european
                                                  federation of
                                                                                                    Newsletter No. 32

                                                                                                             April 2008
ATAXIA                                            hereditary ataxias

Euro-Ataxia is an association whose members work together to give people with hereditary ataxia as normal a life as possible. It does
this by building a strong organisation which represents people with hereditary ataxia’s throughout Europe, by encouraging scientific
research into causes, treatments and by campaigning for treatments to be made available.

Mary Kearney

Welcome to our latest edition of euro-ATAXIA newsletter. We bring                             Report from Nov 2007 AGM .............2
you a summary of events from our annual meeting which took place                              Amendments to statutes .....................4
in Paris on 9th November 2007. We applaud GoFAR’s efforts to bring
a treatment for Friedreich Ataxia to reality and Dr.Antoni Matilla                            Changes in Board of Directors 2007 .5
takes a look at what is happening with the dominant ataxias.                                  The latest in research
         The gene therapy which a previous editor, Daniela Iser, spoke
of being a long way off in December 2005 is making progress, as you                           Drug insight: Anti-oxidants therapy in
can read from the latest news from Japan and Madrid. EURORDIS                                 inherited ataxias - Nature ................6
reports on its recent conference in Lisbon and we have a round up of
the latest from patient organisations worldwide. I hope you will find it                      goFAR’s plans ..................................7
informative and helpful.                                                                      SCA update.......................................8
        We have been fortunate, thanks to Marco Meinders, to have
given our website a “makeover” and name. We invite you to review it                           Gene therapy alleviates ataxia in
and give us your comments. Many thanks to all who contributed in                              Mouse models……………………..10
the production of this newsletter.
        Finally, if you have information you would like to share with                         Functional recovery in FA mouse
euro-ATAXIA from the science, politics and legislation, or if you                             model using frataxin gene transfer 12
have information about activities from patient support groups, please
feel free to inform me at                                                                     Collaboration                                                                    Report from EURORDIS …………...13

                                                                                              Report patient organisations…. ……. 16

                                                                                              What up and coming?
                                                                                              Euro-ATAXIA & AFAF AGM… ….16
AGM              Annual General Meeting                                                       Euro-ataxia.web site…..….………….17
FAF              Association Francaise de Friedreich
EURODIS          European Organisation for Rare Diseases                                                         Editor
FA               Friedreich’s Ataxia                                                                     Mary Kearney
GoFAR            Friedreich’s Ataxia Research                                               Boherboy, Dunlavin, Co.Wicklow, Ireland
SCA              Spino-cerebellar ataxia
                                                                                                                Lay out
                                                                                                              Mary Kearney
euro-ATAXIA                                              2                                        Nr. 32 –April 2008

             Report from euro-ATAXIA’s AGM Paris November 2007
                                                             pathology but it will still be called SCA6 for the
On a bright, dry and pleasant mid-November day all           foreseeable future.
arrived in Paris for what turned out to be a very
useful and intense exchange of opinion and                     * Dr. Paola Giunti described the new SCA11 (2
information. We were fortunate to be joined by 60            families) which affects the 15th chromosome.
scientists from all over Europe and 2 from the USA.          Dr.Muzi-Falconi informed us about SCA 28 of
There were over 30 representatives from patient              which there are 17 patients diagnosed. The mean
organisations including a representative from USA.           age of onset is from 34.8 years (12-64). Some 70%
                                                             of patients have eye symptoms. On MRI x-ray
Our host patient organisations - Association                 examination, cerebellar atrophy can be seen but yet
Francaise Ataxie de Friedreich (AFAF) and                    the person can be healthy. SCA 28 is the sixth
Connaitre les Syndromes Cerebelleux (CSC) had                recognised SCA caused by point mutation. Dr Olaf
made a summary of the talks prior to the meeting in          Riess spoke of SCA 3, and how they have now
French and English which was most helpful.                   generated lines of SCA 3 mice.

              Dominant Ataxias                                       Database versus Registry
Dr. Alexandra Durr started the morning and                   During the Q&A session which followed it became
reported on SPATAX (a European Network for                   apparent again that it is still important for all FA
hereditary spino-cerebellar ataxias and spastic              patients in Europe to join a registry. Gian
paraplegias). This network combines the experience           Piero Sommaruga has inserted multi-language
of clinicians and scientists working on these                guides on Friedreich’s Ataxia Research Alliance
conditions. They hope to map out several genes               (FARA) registry. A registry is usually patient-
during the course of this project.                           initiated (i.e. patients sign up for it directly).
         Next, Dr. Annie Sittler gave us the latest on       Occasionally, a patient's doctor will put them in a
SCA7 patho-physiology. It usually starts at 37 years         registry (with the patient's permission of course). Its
but can present at a younger age if there is a large         purpose is to be able to contact people who have
genetic expansion.                                           registered so they can be informed about clinical
        Prof. Thomas Klockgether told us of the              trials or other activities. It includes contact
progress in the European integrated project on               information and some simple information about the
spino-cerebellar ataxias (EUROSCA). The project              disease, which most patients should know (e.g.
looks at the pathogenesis, genetics, animal models           name of disease, gene test results, ability to walk or
and therapy for the spino-cerebellar ataxias.                use of wheelchair). The registry should include
     The project has 17 centres in 10 countries              information about who will have access to the
organised for only the different dominant ataxias.           patient's contact info. The FARA registry is
Currently the register has 4,000 patients and has            currently accessed only by FARA personnel.
developed a good set of measurement tools –                  Anyone wishing to contact people in the registry
SARA- for clinical trials. He said clinical trials           has to go through FARA. Information from this
currently under consideration were                           registry is only passed to others interested in
  a) Lithium for Spino-Cerebellar Ataxia (SCA)1              research in FA under a specific agreement.
      (preparing for phase I clinical trial),
  b) 4-aminopyridine for SCA1 (phase II trial in             A database is usually doctor-initiated. Doctors who
      discussion at present but there is no money            are participants in the database put in detailed
      available                                              clinical information about their patients or research
  c) VPA for SCA3 (preparing for phase I in                  subjects, but they use a code number rather than the
      China),                                                patient's actual identifying information. Only the
                                                             entering doctor knows the code. The purpose of a
It was considered that idebenone could be used in            database is for doctors to be able to share clinical
SCA 3 but the pharmaceutical company, Santhera               information about groups of patients, to speed up
rejected that idea. Dr Klockgether also pointed out          research. Patients must sign a consent form in order
that SCA6 has no spinal involvement in its                   for the doctor to put their data into the database.
euro-ATAXIA                                               3                                        Nr. 32 –April 2008

Report euro-ATAXIA AGM continued:
                                                              his hospital in Paris but feels a double blind clinical
              Recessive Ataxias                               trial is important to answer questions of
Prof. Michel Koenig, Strasbourg described the new             effectiveness
recessive ataxia (family in Algeria with 7 patients
in 4 families) located on chromosome1q41. It seems
like a pure cerebellar ataxia.                                Dr Barbara.Scheiber-Mojdehkary spoke on the use
         Dr. Stefano Di Donato described the use of           of the injection EPO in Austria in a clinical trial. It
biomarkers in ataxia research. Dr. Helene Puccio              was not a double blind trial.
spoke about fundamental Friedreich Ataxia (FA)                         After a coffee break Paul Konanz spoke on
research using yeast cells and animal cells. The              how patient organisations can help researchers -
exact function of frataxin has not been fully                 remove the barriers of time, money, people,
elucidated but work in this area continues in her             infrastructure and collaboration.
laboratory.                                                            The Questions & Answer session was
         Dr. Pierre Rustin spoke about defining               chaired by Prof. Pandolfo and discussion on
pathways and at-risk target in FA. He voiced some             research and clinical trials predominated. Some
concerns about the long term use of iron chelators            parents were quite upset that promising FA drugs
and this stimulated significant discussion from               were not going to be given to everyone before each
various researchers.                                          individual country approved them. The researchers
         Dr. Gottesfeld, California told us that from         informed us that clinical trials have to be conducted
his viewpoint, frataxin transcription is impaired in          in a proper manner with inclusion and exclusion
FA. Gene silencing occurs due to sticky DNA and               criteria, so reliable results could be obtained even if
repressed chromatin structure. It has been                    that meant excluding some FAers. All efforts to
demonstrated the histone deacetylase inhibitors               explain the required national approval processes
(HDACi) inhibitors can cross the brain/blood                  (both in Europe and the US) seemed to fall on deaf
barrier. This is very important if the level of               ears as parents, family and others see ataxians
frataxin is to increase inside the brain. He went on          progressing. However, Paul Konanz, USA, made
to say that HDACi have been used for Huntington’s             the point that the long inefficient world-wide
disease. They were found to be toxic and Repiligen            progression of idebenone clinical trials has delayed
(pharmaceutical company) are trying to produce                idebenone being approved by regulatory agencies.
non-toxic drugs. Repligen may start the clinical trial        The past is gone and the future beckons. He hoped
progression in about a year.                                  that we could do better now and organise efficient
         Dr. Isabelle Husson, Paris, reported on a            clinical trials.
clinical trial with pioglitazone, a drug which
induces the expression of many enzymes involved
in the mitochondrial metabolism. It is a potential                   Guidelines for treatment of FA
neuro-protective agent and crosses the blood brain            On Saturday morning the 60 researchers held their
barrier in humans. The trial is in the planning and it        own meeting on creating a "consortium" to
could become multi-central in Europe.                         manage the coming flood of FA trials in a
            Dr. Perlman, California spoke about the           population-limiting environment while the patient
clinical trial process. In particular, how all clinical       organisations heard from Dr. Ewout Brunt,
trials in USA must have quality of life issues                Nederland about a 64 page document on Guidelines
included in the trial. She went on to describe                for treatment of FA It was generated over 2 years
mitquinone, a unique mitochrondrial targeted anti-            and cost €50,000 to produce. It is written in Dutch
oxidant drug. It has already been used in clinical            and available on the internet at
trial in Parkinson’s disease.                                 /

Prof. Arnold Munnich, Paris traced the history of                    The summary was translated into English by
iron chelators – Deferiprone and told us that it has          euro-ATAXIA secretary, Mary Kearney and
been used in 15,000 children world-wide which                 subsequently by AFAF into French and will
suggests its safety. He has used it in an open trial at       available on new euro-ATAXIA website.
euro-ATAXIA                                                4                                      Nr. 32 –April 2008

                                                               survey they ran on access to care for a large
                                                               number of rare disorders and the results will be
Report euro-ATAXIA AGM continued:
                                                               discussed on page 13 of this newsletter.

Euro-ATAXIA is to organise translation of the
remainder of the document. Further conversation                How the Friedreich Ataxia Parents Group
centred around the possibility of a similarly                  (FAGP) works in USA
produced article for use of dominant ataxias. Dr.              Finally Paul Konanz, the parent of an ataxian from
Brunt has no funding available for that but he                 California, USA told us of the work he does on
indicated that the outline of the current guidelines           behalf of FAPG- on how he helps ataxians and their
could be easily used for other ataxias.                        families in USA.
                                                                       He told us that he personally contacts all
                  Clinical trials                              new subscribers to the FAPG list within 1 week of
                                                               their joining the list. Where possible, he will visit
EURORDIS is an non-governmental patient driven                 them personally or organise somebody else to go it
alliance of patient organisation and individuals               if they live a long distance from him. He informs
active in the field of rare diseases, dedicated to             them of the services that he knows that are available
improving the quality of life of all people living             to them. He went on to tell us how we could all help
with rare diseases in Europe. Christelle Nourissier,           personally and through ataxia organisations. He
director of EURORDIS gave us the wisdom which                  discussed how we needed to change, adapt and
their organisation gained from looking at the                  serve our members better (than
clinical trials and led them to produce the                    they already are!) in this fast moving research and
EURORDIS Charter for clinical trails which can be              communication technology world of ours.
seen on their website                          ____________________________________
         Christelle detailed the advantages and
disadvantages for individuals in participating in
clinical trials. She then presented the global
advantages and disadvantages for the patient and                            AMENDMENTS
society. EURORDIS felt that there is a need to                       to euro-ATAXIA’S STATUTES
conduct trials in a coordinated manner and
following standard rules. Members of patient                   Several changes to the statutes were proposed,
organisations expressed doubts and dissatisfaction             however the following were passed. It was decided
with the double-blind placebo-controlled clinical              that a further objective of euro-ATAXIA was to
trials, and the fact that often the more severely              promote awareness of ataxia in medicine, science
affected sufferers are often not included in clinical          and society.
trials.                                                                The number of Board members on the board
         Patient organisations felt that trials took too       was changed to 7 members. There was great interest
long, which they felt caused a slow down in the                in the elections as there were more nominations that
development of treatments. However Eurordis said               than there were places. We hope to be able to
that proper trials are the only way to assess whether          maintain that level interest in euro-ATAXIA in the
a new treatment was effective and safe. The rarity             future.
of the disease and the number of proposed                              English was adopted as the official language
treatments mean that clear choices on what                     of euro-ATAXIA. It was decided that members of
treatments are worthy of testing. Clinical trials must         euro-ATAXIA would be send two reminders if
be done properly, rather than dispersing efforts in            their membership fees have fallen due, before
many small, open-label, uncontrolled studies that              terminating their membership of euro-ATAXIA.
would only add to confusion because they would                 These changes now have to be ratified by the
never prove anything. Such uncontrolled studies                Belgium authorities and Susan Millman our new
create expectations and hopes among patients that              secretary–general will be involved in that
might be unfounded, and they would need to be                  procedure.
followed by proper studies anyway.

EURORDIS presented the preliminary results of a
euro-ATAXIA                                                           5                                           Nr. 32 –April 2008

            euro-ATAXIA’s Board

Euro-Ataxia has some new board members but

President                                                                                Claudie Baleydier,
               Helen Rikken van Wijk, President,                                         the French representative on Euro-Ataxia is keen
     , has kept her promise to                           as ever to help euro-ATAXIA despite losing her
               do the best she can and remains as president for                          son Pierrot from FA (or AF to give it its French
               a further year.                                                           acrynom) in early 2008.

                Dr Francesc Palau is Scientific Investigator and                         Peter Reussner,,
                Scientific Director- Genomics and Proteomics                             was elected this year as our ataxia
                Institute of Biomedicine, member of Spanish Council                      representative. He has served on the board for
                for Scientific Research (CSIC) and Joint Centre for                      several years and is a valued member.
                Biomedical Research on Rare Diseases (CIBERER)
                His work is based in Valencia, Spain.


                   Susan Millman joined Ataxia UK in Summer
                  2007. She attended the euro-ATAXIA meeting
                  Was the UK representative to the euro-ataxia
                  Board.                                                  Another New EU organisation
                                                                          For neurodegenerative disease which does not as
                                                                          yet include ataxia

                                                                          Neurodegenerative diseases and neuro-trauma
                                                                          represent one of the greatest clinical and societal
Treasurer                                                                 challenges of this century. By working together,
                Marco Meinders, remains as treasurer until 2008.
                                                                          scientists and patient organisations from
                There was great delight at the AGM that the               throughout Europe are hoping to make huge
                banking problems have been resolved.
                                                                          advances in the treatments of conditions affecting
                                                                          the brain and spinal cord. They are all part of the
                                                                          highly innovative NeuroNE Project. NeuroNE is
                                                                          Europe's premiere research network for the creation
                                                                          of novel therapeutic approaches to diseases
                                                                          affecting the brain and spinal cord. The consortium
                                                                          is funded by the European Union. See its website:
                 Barbara Flynn from Ireland is Chief executive of
                Friedreich Ataxia Society Ireland. This society       
                incorporates all hereditary ataxias.

                                                                          ALS has a similar incidence as ataxia and it was
                                                                          included in this project. Does anyone know why
                                                                          ataxia is not included in this Neurone project?
euro-ATAXIA                                               6                                        Nr. 32 –April 2008

Drug Insight: antioxidant therapy in                          molecular defect and lies at the root of the
inherited ataxias (Nature) 2008                               pathogenic process. Use of antioxidant treatment in
                                                              FRDA is founded on increasingly solid knowledge
Written by Prof. Massimo Pandolfo, Neurology,                 of the disease process and on appropriately
Erasmus University Hospital, Brussels, Belgium                designed clinical trials. This is a remarkable
                                                              accomplishment for a rare disorder, and it owes
Reprinted with the permission Nature Clinical                 much to the establishment of large collaborations,
Practice Neurology (2008)                                     involving basic and clinical scientists.

                                                              The role of patients' advocate groups in supporting
                                                              research and encouraging collaboration has been
                                                              crucial, prompting pharmaceutical companies to
The inherited ataxias are a large, heterogeneous
                                                              sponsor clinical trials, despite the niche nature of
group of neurodegenerative disorders caused by a
                                                              the prospective market. Eventually, treatment
variety of gene mutations, the effects of which are
                                                              guidelines will be supported by the same standards
exerted through different pathogenic mechanisms.
                                                              of evidence sought for more common disorders,
Despite this diversity, oxidative stress seems to be a
                                                              rather than the anecdotal, empirical evidence
common factor in the pathogenesis of these
                                                              usually available for rare diseases.
disorders, indicating that antioxidants might be
potential therapeutics for these currently incurable
                                                              Whether antioxidant treatment will turn out to be
conditions. Some inherited ataxias, such as ataxia
                                                              effective in other ataxias is less certain, although in
with vitamin E deficiency, are directly caused by
                                                              some cases the rationale is strong. It is important
defects in small-molecule antioxidants and might be
                                                              that all efforts to evaluate these treatments maintain
treated by supplying the defective molecule. In
                                                              the highest methodological standards, despite the
most ataxias, however, oxidative stress has more-
                                                              difficulties caused by the rarity of these diseases, as
complex disease-specific causes and consequences,
                                                              the story of FRDA has clearly shown.
which must be better understood to enable effective
treatments to be developed.

Results from studies in cellular and animal models
                                                              Key points
need to be brought to the clinic through rigorous
trials. The rarity of each of these diseases can,
                                                                 •   Oxidative stress is a key factor in the
however, make trial design and execution a very
                                                                     pathogenesis of inherited ataxias, but the
difficult task. Challenges include the development
                                                                     mechanisms involved vary between
of validated clinical assessment tools and
                                                                     different conditions, necessitating distinct
biomarkers, and the recruitment of a sufficient
                                                                     therapeutic approaches
number of patients. Despite these obstacles, marked
                                                                 •   FRDA is caused by deficiency of a
progress has been made in the case of Friedreich
                                                                     mitochondrial protein, frataxin, which has
ataxia, a disease that has oxidative stress at the core
                                                                     direct antioxidant and iron-regulatory
of its pathogenesis. This condition seems to respond
                                                                     functions, making this disease a prime
to idebenone, a coenzyme Q analog that has
                                                                     candidate for antioxidant therapy
antioxidant and oxidative-phosphorylation-
                                                                 •   Clinical rating scales and biomarkers for
stimulating properties.
                                                                     FRDA are rapidly being developed and are
                                                                     beginning to be used in controlled, double-
Conclusions                                                          blind clinical trials
                                                                 •   Several antioxidants have been tested in
The inherited ataxias encompass a wide spectrum of                   FRDA, but placebo-controlled, double-blind
disorders. Oxidative stress is likely to contribute to               trials have only been conducted with
the pathogenesis of most, if not all, of these                       idebenone; a recent phase II trial provided
conditions, although its specific role and                           very encouraging results regarding the
mechanisms vary between different diseases.                          safety and possible efficacy of this drug
Friedreich ataxia (FRDA) has so far provided the                 •   A few rare forms of ataxia are directly
best example of a disease in which oxidative                         attributable to the deficiency of small-
damage occurs as a direct consequence of the
euro-ATAXIA                                                      7                                       Nr. 32 –April 2008

         molecule antioxidants—such as vitamin E
         and coenzyme Q10—for which replacement
         therapy is possible
    •    There is a rationale for testing antioxidants
         in ataxias attributable to DNA repair defects,              In March 2008 GoFAR, announced that it is
         autosomal-dominant spinocerebellar ataxias                  funding the principal researcher Dr. Daniele
         and ataxias with primary mitochondrial                      Marmolino, in the experimental neurological
         dysfunction, but no controlled clinical trials              laboratory at the Libre University (ULB), Brussels,
         have been conducted to date                                 under the Supervision of Prof. Massimo Pandolfo to
                                                                     help in the development of HDACi inhibitors

                                                                     The aim of this project is the development of an
Acknowledgments                                                      effective treatment for Friedreich ataxia. The cause
                                                                     of this disease is a genetic mutation that prevents
Support to the author for research in inherited ataxias comes
from the GoFAR foundation (Italy), the CRT foundation
                                                                     the cell from making a normal amount of frataxin.
(Italy), the Friedreich Ataxia Research Alliance (USA), Ataxia       Frataxin is a protein that is necessary for the
UK, Friedreich Ataxia Society Ireland, the Belgian Ministry          function of mitochondria, the cell powerhouses that
of Scientific Policy (Interuniversity Attraction Poles 6), the       produce the energy needed for all cellular functions.
Belgian National Scientific Research Funds (FNRS) and the            Patients with Friedreich ataxia can make normal
European Community (Framework 6 integrated project
                                                                     frataxin, they just do not make enough of it.

                                                                     In previous studies, it was shown that some drugs,
                                                                     called HDAC inhibitors, can increase frataxin in
            Latest goFAR Project:                                    cells from individuals with Friedreich ataxia and in
                                                                     mice that have been genetically manipulated to
                                                                     mimic the disease. It is planned to improve our
        Use of small molecules for the                               understanding the mechanisms of action of these
        treatment of Friedreich Ataxia                               drugs by studying their targets, enzymes called
                                                                     histone deacetylase, that modify how genetic
                                                                     material (DNA) is packaged in the cells.
GoFAR is an Italian based Friedreich’s Ataxia Research
committee which was launched in 2005 to accomplish
the goal of establishing a valid treatment to defeat FA.              In addition, it is planned to evaluate another class
Since that time GoFAR has sponsored several                          of drugs for their ability to increase frataxin. These
international projects which have uncovered helpful                  drugs, called PPARγ agonists, have a completely
information and will hopeully lead to a treatment for FA.            different mechanism of action. It is considered that
                                                                     a combined treatment may be more effective and
In the last euro-ATAXIA newsletter, September                        have less side effects. Furthermore, PPARγ agonists
2007, we told you that Bernardo Ruggeri (GOFAR)                      have neuro-protective properties that may provide
was elected European representative of the                           even more benefit. These drugs are already
Friedreich’s Ataxia (FA) patient associations to                     approved for use in diabetes.
liaise with pharmaceutical companies. Ron Bartek
was chosen as American and Australasia                               http://www.fa-
        On the 8th October 2007, Bernardo Ruggeri
(GoFAR), represented the European network of FA                      About GoFAR:
patients, at a meeting organised by Repligen in
Washington D.C.. Researchers involved in the
HDACi drug development phase were also present.
GoFAR has committed itself to finance the
necessary studies that need to be conducted at
research labs and universities dealing with HDACi
development in order to ensure a rapid advance
towards patient clinical trials.
euro-ATAXIA                                            8                                        Nr. 32 –April 2008

                                                                  by Dr Antoni Matilla-Dueñas, BSc MB DSc.
                                                    Health Sciences Research Institute Germans Trias i Pujol,
                                                Universitat Autonoma Barcelona, Badalona (Barcelona), Spain

This year marks the 15th anniversary of the                Alzheimer’s, Parkinson’s and cancer. Therefore
identification of the first gene associated with a         excellent researchers working on ataxias have in
Spino-Cerebellar Ataxia (SCA) subtype by Huda              most of the cases only public agencies as a source
Zoghbi and Harry Orr in the USA in 1993. Since             for obtaining funding for their research. The
then, intensive research devoted has led to the            EUROSCA project was generously funded by the
identification of 30 more genes responsible for            VI framework programme of the European
SCAs and a better understanding of the basic               Commission and is to have its final meeting in
molecular pathogenic mechanisms underlying a few           September 2008. It has helped but clearly it is not
SCA subtypes (mainly SCAs 1, 2, 3, 6, 7, 17 and            enough. Could these arguments explain the lack of
DRPLA). However, not enough effort has been                effective clinical trials running in ataxia patients in
dedicated to developing effective therapeutic              2008? The answer is without any doubt: yes. Not
approaches, which is leading to the increased              enough funding, from both public and private
frustration and apparent believe that basic research       agencies, is the reason to blame. The chances for
is not being translated into palliative/therapeutic        obtaining EU funding within the next framework
strategies for ataxia patients at the speed that is        programme on ataxia research (i.e. like EUROSCA
needed.                                                    II) devoted to the establishment of clinical trials in
                                                           ataxia patients would probably be, unfortunately,
Why is development of treatment so slow?                   very low. Indeed, this was recently discussed by the
It is widely believed (and probably true) that good        members of the EUROSCA Steering Committee in
basic (both objective- and hypothesis-driven)              a recent meeting.
research is slow and expensive. The reasons for this
slow process are not difficult to envisage. As with        What does the future hold?
any process involving funding, high quality                Peter Russener, euro-ATAXIA board member, who
scientific research activities do not lack of long         attended the recent EUROSCA (European
bureaucratic steps, that could be tedious, mainly          integrated project on Spino-Cerebellar Ataxias)
involving seeking funds, scientific and ethical            meeting in Strasbourg told us of the foundation of
evaluation, recruitment of competent, efficient and        the European Ataxia Study Group (EASG).
highly motivated researchers, performing time-             Funding for EASG has not been clarified yet. This
consuming experiments (particularly if animal              collaborative initiative gathers scientists, working
models are involved), reporting scientific data and        on ataxias from all over Europe, with the goals of
its publication process. These are steps that cannot       translating excellent basic research (mostly
be missed in order to have high chances of success.        hypothesis-driven) into clinical trials. Among the
Good quality innovative research is now multi-             list of priorities set is the identification of disease
disciplinary, often involves the collaboration of          biomarkers, both by micro-array and proteomic
scientists working in different areas, fields and          approaches, in animal models and patients, for
methodology, and requires expensive sophisticated          following up the clinical progress and later on to
equipment and resources, which can discourage any          evaluate the effectiveness of treatments.
young researcher starting a career in science.
Scientists, like me, who have been successfully            Identifying disease markers
working on ataxia research for these 15 years are          Identifying disease biomarkers could be effective
aware of the difficulties in obtaining funding for         for ataxia patients. Among the results and
doing research on rare diseases such as ataxias.           conclusions obtained by basic scientists working on
                                                           ataxia research during these last years is that
Sources of finance for research                            dysregulation of molecular routes, some of them
Solvent pharmaceutical solvent companies prioritise        common to different ataxia subtypes, is the basic
the funding available to support research of human         mechanism underlying neuro-degeneration in
diseases with higher prevalence, such as                   cerebellar ataxias
euro-ATAXIA                                                       9                                              Nr. 32 –April 2008

                Molecular mechanisms of neuro-degeneration in spino-cerebellar ataxia

                 Matilla-Dueñas, A. et al. Brain 2006 129:1357-1370; doi:10.1093/brain/awl081

Figure 1. Molecular routes involved in the pathogenesis of spinocerebellar ataxias. 1, Aggregation; 2, Apoptosis; 3, Autophagy; 4,
Ca2+ homeostasis alterations; 5, Disruption of axonal transport and vesicle trafficking; 6, Excitotoxicity; 7, Interference with gene
transcription; 8, Mitochondrial impairment; 9, Oxidative stress; 10, Alterations of proteasome degradation; 11, Synaptic dysfunction;
12, Unfolded protein response (UPR); 13, Potassium channel dysfunction; Ca2+, calcium ions; ER, endoplasmic reticulum; Glu,
glutamate; K+, potassium ions; Na+, sodium ions; Q, glutamine; Ub, ubiquitin.

Identifying disease markers continued:                                 them in animal models and making them available
There are different routes identified that have been                   to ataxia patients in clinical trials. This implies that
found to be altered in neurons of ataxia patients or                   at some point the participation of the
animal models with ataxia: calcium and potassium                       pharmaceutical industry is needed in order to
signalling, proteasome and autophagy degradatory                       provide and even support with chemicals and
pathways, dopaminergic signalling, glutamate                           resources that could then be used during the process
excitotoxicity, microtubule stability, are just a few                  of therapeutic design and exploitation. There is not
examples (see Figure 1). It is easy to envisage that                   much we can do without the participation of the
the identification and quantification of molecules in                  pharmaceutical industry into any step of this long
biological samples from patients (i.e. cerebrospinal                   process and this is the single most important reason
fluid, blood) of each route altered in the disease                     why translating the hypothesis-driven basic research
status could be targeted with drugs for preventing                     that we are doing into the design and establishment
and palliating the clinical symptoms by re-                            of therapeutic trials in patients is failing.
establishing the corresponding cellular function.
                                                                       What can euro-ATAXIA do to help?
Next steps!                                                             I hope that with the intensive efforts made by the
The next steps would include obtaining drugs                           members of the recently founded EASG and the
targeting specifically these molecules, testing                        ongoing collaboration of ataxia patient associations,
euro-ATAXIA                                             10                                      Nr. 32 –April 2008

such as euro-ATAXIA, and public funding                      SCA1, SCA2, SCA6 is planned. This plans to be a
agencies, we could then persuade pharmaceutical              multi-centre project but funding for some centres is
companies for investing and dedicating more efforts          not available. Can any patient organisation help
and resources into drug screening and development,           with funding?
into establishing preclinical assays in cell and
animal models and very importantly clinical trials           EUROSCA Final Meeting
in ataxia patients.
Dr Thomas Klockgether, chief executive of EASG               The final meeting of the EUROSCA project is now
committee has indicated that a number of new                 scheduled for September 2008 in Palma de
research project on individuals at risk of developing        Mallorca, Spain.

Gene therapy alleviates Ataxia in mice model
of polyglutamine disease (SCA)
                                                                                            By Prof Hirokazu Hirai
                                                               Professor and Chair, Department of Neurophysiology,
                                                                    Gunma University Graduate School of Medicine,
                                                                                                    Gunma, Japan

Prof Hirai recently published experimental                   highly expressed in young neurons. In developing
results on lentiviral-vector-based gene therapy              brain, neurons extend and branch their axons to
for Spino-Cerebellar Ataxia (SCA) model mice                 make synapses with neighbouring neurons. When
in a journal of European Molecular Biology                   too many synapses are formed, unnecessary
Organisation, EMBO reports. He very kindly                   synapses with axon branches are trimmed. CRAG is
sent this summary to the euro-ATAXIA                         largely involved in the disposal of proteins from
newsletter.                                                  trimmed axon branches and synapses. In the mature
                                                             brain, CRAG works to remove unnecessary proteins
 Lentiviral vector-mediated expression of an                 from neurons. As we humans grow, the levels of
enzyme, CRAG, in the cerebellum of SCA mice,                 CRAG are gradually decreased, which could lead to
strikingly rescued the ataxic phenotype in 8                 deposition of proteins that are otherwise degraded.
weeks. The details of the experiments and future             This raises one idea about the onset of
directions of our research are described.                    polyglutamine disease including Huntington disease
                                                             and hereditary spino-cerebellar ataxia: a reduced
Mutations in the DNA sequence of several genes               level of CRAG initiates accumulation of
cause the proteins they encode to contain                    pathological forms of polyglutamine protein,
abnormally large amounts of the amino acid called            leading to degeneration of neurons. Thus, targeted
glutamine. Over time, the build up of polyglutamine          delivery of CRAG could be a potential gene therapy
aggregates leads to neurological degeneration and            for polyglutamine disease.
the onset of disease symptoms. This pathogenesis is
shared with at least 7 types of SCA and Huntington
disease, and they are called polyglutamine disease.          The type of model mice we generated
Using vectors derived from lentiviruses, we                  We have produced model mice of SCA type 3
expressed a protein, CRAG, that assists in the               (SCA3) that express the protein responsible for
breakdown of polyglutamine aggregates in SCA                 SCA3 only in the cerebellum. The protein that
mouse cerebellum.                                            causes SCA3 is ‘ataxin-3’. Ataxin-3 is ubiquitously
                                                             expressed in all cells of humans, but when
CRAG, an enzyme that assists degradation of                  polyglutamine stretches of ataxin-3 are abnormally
toxic aggregates                                             expanded because of genome mutation, only a
CRAG had been originally discovered by Professor             limited subset of neurons in the brain are affected.
Yanagi’s group in the Tokyo University of                    The reason why only neurons in the limited brain
Pharmacy in 2006. CRAG is an endogenous protein              regions are affected remains to be clarified. One
euro-ATAXIA                                           11                                      Nr. 32 –April 2008

reason to account for this is that only the                aggregates in the cerebellum of SCA mice around
susceptible neurons have a protease that cleaves           this age. Two weeks after the viral injection, ataxic
mutant ataxin-3 to produce a toxic fragment. It is         phenotype of SCA mice was markedly improved,
proposed that a toxic cleavage fragment of mutant          while the symptoms of non-injected or sham-
ataxin-3 triggers neuro-degeneration. Our SCA              operated SCA mouse littermates remained
mice express very short fragment of ataxin-3               unchanged. The motor control ability of SCA mice
lacking N-terminal 286 amino acids and consisting          treated with CRAG-expressing lentivectors
of 69 glutamine amino acids repeats also known as          gradually improved thereafter (Fig. 1).
a polyglutamine stretch with 4 and 42 amino acids                  After an eight-week follow up, the SCA
at its N-terminus and C-terminus, respectively.            mice were sacrificed for the assessment of the
Thus, the main body of the protein is polyglutamine        polyglutamine aggregates. CRAG was effectively
stretch, and therefore, our SCA mice could be              expressed in the 3~4 lobules of the cerebellum,
alternatively regarded as model mice of general            where polyglutamine aggregates were substantially
polyglutamine diseases. The mice exhibited                 removed (Fig. 2). Moreover, cerebellar neurons
markedly atrophied cerebellum and severe ataxia            expressing CRAG restored dendrite extension,
several weeks after birth.                                 suggesting that CRAG rescued neurons from
                                                           degeneration by assisting in the removal of the toxic
                                                           aggregates, resulting in an improvement of ataxia.

                                                           Obstacles to clinical trial
                                                           This study used the lentiviral vector derived from
                                                           the lentivirus, a member of the retroviral family.
                                                           Retroviruses are characterized by the integration of
                                                           their genome into the nuclear chromosome of the
                                                           infected cells.
                                                                   Likewise, lentiviral vectors used in our
                                                           study integrate CRAG gene into the chromosome of
                                                           cerebellar neurons, raising the possibility that
                                                           insertion of CRAG gene destroys critical sites of the
                                                           host chromosome. This is called ‘insertional
                                                           mutagenesis’ that could induce unwanted side
                                                           effects such as tumorgenesis, although the
                                                           possibility is very low.
                                                                   We are now trying to avoid the insertional
                                                           mutagenesis by using different types of viral
                                                           vectors that do not integrate their genome into the
                                                           chromosome of the infected cells. In addition, we
                                                           are further verifying influence of CRAG when over
                                                           expressed in neurons. We also examine the
                                                           therapeutic effects of CRAG and other candidate
                                                           proteins on SCA1 model mice. Based on basic
Fig. 1 Footprint of SCA mice. Ink was put on the           results that would be hopefully obtained soon, we
hind paws of un-treated mice (left) and those eight        are planning to move on to the monkey
weeks after the treatment with lentiviral vectors          experiments, in which we want to prove that virus-
expressing CRAG (right).                                   mediated expression of CRAG is safe enough to
                                                           apply for patients.

Delivery of CRAG into SCA mouse cerebellum
CRAG-expressing lentiviral vectors were directly
injected into the cerebellum of the SCA mice at 4
weeks of age showing severe ataxia. We had
confirmed the deposition of polyglutamine
euro-ATAXIA                                                     12                                             Nr. 32 –April 2008

Untreated                                                             CRAG treated

Fig. 2 Marked reduction in polyglutamine aggregates in cerebellar neurons that express CRAG. The cerebellar slices from un-treated
(left) and CRAG-expressing (right) SCA mice that were immunolabeled for polyglutamine aggregates.

Functional Recovery in a Friedreich's Ataxia Mouse Model by Frataxin Gene
Transfer Using an HSV-1 Amplicon Vector
This abstract became available through FA_Babel Family web site, for which Gian Piero Sommaruga works
tirelessly. It was Published online 20 March 2007.

Research team: Filip Lim, Gloria M Palomo,                            with CRE-expressing herpes simplex virus type 1
Christina Mauritz, Alfredo Giménez-Cassina, Belen Illana,             (HSV-1) amplicon vectors. We have also achieved
Francisco Wandosell and Javier Díaz-Nido who are all based
at Molecular Biology Departament, Centro de Biología
                                                                      in vivo delivery by stereotaxic injection of these
Molecular "Severo Ochoa" (CSIC-UAM), Universidad                      CRE-expressing vectors into the brainstem of
Autónoma de, Madrid, Madrid, Spain                                    loxP[frda] mice to generate a localised gene
                                                                      knockout model. These mice develop a behavioral
Overview                                                              deficit in the rotarod assay detectable after 4 weeks,
                                                                      and when re-injected with HSV-1 amplicon vectors
There is currently no effective treatment for                         expressing human frataxin complementary DNA
Friedreich's ataxia (FA), the most common of the                      (cDNA) exhibit behavioral recovery as early as 4
hereditary ataxias. The disease is caused by                          weeks after the second injection.
mutations in FRDA that drastically reduce
expression levels of the mitochondrial protein                        Conclusion
frataxin. In FA animal models, a key difficulty is                    To the best of our knowledge, this is the first proof
obtaining the precise levels of frataxin expression in                of principle of recovery of neurological function by
the appropriate tissues to provoke pathology                          a therapeutic agent aimed at correcting frataxin
without early death. To develop strategies to                         deficiency.
circumvent these problems, conditional frataxin
transgenic mice have been generated. We now show                      Editor’s comment: I find these two articles on gene
that frataxin expression can be eliminated in                         therapy are thought provoking and I am sure we
neurons from these loxP[frda] mice by infection                       will hear about these again.
euro-ATAXIA                                               13                                       Nr. 32 –April 2008


We were fortunate that Marco Meinders was able to              and its partners, within the official agenda of the
represent euro-ATAXIA and Association Cerebellar               Portuguese EU Presidency, was the opportunity to
dominant ataxias (ACDA), Netherlands, on this                  discover the main recommendations contained in
occasion.                                                      the proposed communication as well as other topics
                                                               of great interest to the rare disease community. The
                                                               programme included presentations, debates, poster
NEWS                                                           sessions and a press conference.

European Conference on Rare Diseases                           Promoting patient-centred policies
Lisbon 2007                                                    During his opening speech, Terkel Andersen,
                                                               President of Eurordis and Co-Chair of the
The last biennial European Conference on Rare                  Programme Committee, extended a warm welcome
Diseases (ECRD Lisbon 2007) was a turning point                to everyone and reminded us of the importance of
in the process to include the patients’ voice in the
future European action in the field of rare diseases.
The event served as the platform for the European
Commission’s proposal of a Communication on
Rare Diseases and as a launching pad for an
unprecedented public consultation that will be open
until February 14, 2008. Antoni Montserrat, from
the European Commission’s Health and Consumer
Protection Directorate General, made a passionate
speech to encourage the rare disease community to
respond to the public consultation and send their
contributions on time. He explained the importance
of the Communication and how, if ratified by the               this meeting. ‘This is a key event because it helps
Council of Ministers of Health and the European                promote patient-centred policies at national and
Parliament, it could influence Member States future            European levels and confirms the vitality of the rare
policies in this field and give patient organisations a        disease community in Europe’, he said. In order to
                                                               set the background to the upcoming discussions,
                                                               Ségolène Aymé, Director of Orphanet and leader of
                                                               the Task Force on Rare Diseases of the European
                                                               Commission, presented an overview of Member
                                                               States’ public health policies for rare diseases in
                                                               three different domains: genetic testing, neo-natal
                                                               screening and research.

                                                               Outcomes of workshops on rare disease,
                                                               In the following session, Alexandra Fourcade from
                                                               the French Ministry of Health moderated the debate
                                                               on the future organisation of health services and
                                                               medical care for rare disease patients at national and
tool to demand more and better care.                           European level. Birthe Holm, Vice President of
                                                               Rare Disorders Denmark, presented the outcomes of
More than 400 people gathered in Lisbon on the                 a series of workshops, organised within the Rare
27th and 28th of November. Participants came not               Disease Patient Solidarity Project (RAPSODY),
only from all over Europe but also from countries              which focussed on national centres of expertise and
like India, Egypt, Algeria and all the way from Iran           European reference networks. The presentation
and Kazakhstan, in addition to the US and Canada.              marked the end of two years of intense European
The Conference, which was organised by Eurordis                and local-level discussions about the usefulness of
April 2008
euro-ATAXIA                                             14                                       Nr. 32 –April 2008

networking centres of expertise and how best to              great deal of attention. The testimony from a Polish
identify, support and evaluate them.                         woman living with Cystic Fibrosis, put a face to the
                                                             problems encountered by millions of rare disease
Services for patients                                        patients searching for adapted and quality care
The patient perspective was presented by Eurordis            beyond national borders. Not surprising the session
Chief Executive Officer, Yann Le Cam, and was                devoted to the latest developments in orphan drug
based on the preliminary results of EurordisCare3 -          policies and advanced therapies, was of special
a large survey on patients’ needs and expectations           interest to participants. Amongst the issues debated,
concerning access to health services in Europe. The          was the question of gene and cellular therapy and
study, which involved more than 6,000 people,                how best to promote their potential within EU
(some of the ataxia organisations were asked to              future policy.
participate and initial results were presented at the
euro-ATAXIA AGM in Paris) revealed that rare                 EU research policy
disease patients want specialised centres which              On the second day, at the session “Making the most
know their disease well, accept to treat it and are          of EU Research policy” participants were able to
multidisciplinary. They also expect improved                 hear the round-up of a series of workshops that took
medical information sharing and coordination                 place during 2007 on this theme, with the support of
                                                             the European Commission’s Directorate General for
                                                             Research. Of particular interest was Eurordis’
                                                             presentation on patients’ contribution to the
                                                             research agenda (in the context of the CAPOIRA
                                                             project). The session was well-balanced with the
                                                             presentation of EBE/EuropaBio which presented the
                                                             views of the pharmaceutical industry on this issue.

                                                             ECRD Lisbon 2007 was also the place to discover
                                                             emerging initiatives by member states, such as the
                                                             French Emergency Rare Disease Card Project, the
                                                             new Italian actions in rare disease research and the
                                                             Portuguese initiative to set up a national plan for
 10 EurodisCare 3 survey
                                                             rare diseases.
between all the professionals who care for them.
                                                             Each of the eleven conference sessions was
Aside from the political agenda, the event entitled          followed by a lively debate during which patient
“Patients at the heart of rare diseases policy               representatives; health professionals, policy-makers
development “, was the place to get to know the              and pharmaceutical stakeholders could ask
latest services available to rare disease patients in        questions and voice their concerns. The conference
terms of paramedical care and social assistance.             ended with a take home message from Committee
Participants were able to learn more about help              Co-Chairman Professor Josep Torrent I Farnell
lines and the newly created European network of              encouraging the rare disease community to continue
respite care services and therapeutic recreation             to promote rare diseases higher in the agendas of
programmes. “This project is a long-term                     national governments and European institutions.
commitment with the objective of creating networks           Why not be ambitious? By the next European
of services for patients, health professionals and           Conference in Poland every Member State should
carers”, explains François Houÿez, Director of               have its own National Plan for Rare Diseases.
Health Policy at Eurordis and RAPSODY Project

Patient mobility with in Europe                              Many thanks to EURORDIS for this summary of the
Other hot topics, such as advanced therapies and             conference
patient mobility in an enlarged Europe, attracted a

April 2008
euro-ATAXIA                                               15                                       Nr. 32 –April 2008


                                                               National Ataxia Foundation (NAF) –in USA -is a
Prenatal diagnosis of FA                                       non profit making organisation representing all
                                      ataxias in USA. It held and annual meeting in
FARA Australasia recently produced the                         March and as always had a very interesting line up
newsletter. In it they tell us of their very successful        of speakers. This year the Ataxia Investigators
conference in Nov 2007. Prof Richardson spoke of               meeting AIM preceded the Annual meeting of
his work using iron chelators on mice. Dr Joe                  NAF. Researcher from all parts of USA, England,
Sarsero told of his work investigation the                     Strasbourg and Australia participated. Initial reports
correlation between GAA expansion length and                   suggest that the phase 3 idebenone clinical trial has
amount of residual frataxin in FA sufferers.                   quite a lot of patient already signed up to
        Prenatal diagnosis of FA can be an issue for           participate. We await a full report and hope to bring
prospective parents. A new test is now available               it to you next issue of the newsletter.
where IVF is used to create embryos (using eggs
from the mother and sperm from the partner) and
DNA from each embryo is tested to see if the                   FEDAES have scheduled their annual meeting in
embryo is affected. The test has been available in             mid June this year. Like the French meeting it is
Australia for many inherited such as cystic fibrosis           always rewarding to attend and gives us all great
and thalassaemia. Unfortunately it is only available           confidence that our researcher and scientists are
through private IVF clinics (probably in Australia)            working very hard to get a treatment for ataxia.
and costs $3,000 (Australian). However if you
know of a couple who are at risk of having a child
with FA, it might be appropriate to mention it to
them. More information is available from

                               Preliminary Notification of euro-ATAXIA AGM

   •   Thursday 25th September
       Joint scientific conference
       Friedreich’s Ataxia Society Ireland & Ataxia UK
       This Conference is for Scientists and speakers are being invited by FASI & Ataxia UK.
       Euro Ataxia Delegates need not necessarily arrive for Thursdays Scientific Conference, they can leave
       it till Thursday evening (in time for dinner).

   •   Friday 26th September
        euro-ATAXIA Medical Conference
       If there are any medical speakers you would like to be invited to speak or to attend please let us know.

   •   Saturday 27th September
       euro-ATAXIA AGM
       Should we have a slot for all member countries to give presentation about what they do i.e. treatments,
       clinics, respite. Please let me know.

Venue for Conference: Stillorgan Park Hotel, Stillorgan, Co. Dublin (
This hotel is on the South Side of Dublin and there is an “Air coach” every 15 minutes from the Airport which
will bring you directly to Stillorgan Please note that the route is DUBLIN AIRPORT TO
LEOPARDSTOWN. Cost of Coach is €12 return. FASI will organise wheelchair accessible transport for
anyone who needs it. More details to follow later from BARBARA

April 2008
euro-ATAXIA                                            16                                    Nr. 32 –April 2008

Association Francaise de ataxia Friedreich                  you can see from the programme below it should be
AFAF have their annual meeting in Nounat on 6th             a very productive meeting.
April and we also look forward to that report. As

                    Programme de la Rencontre annuelle AFAF 5 et 6 avril 2008

Samedi 5 Avril 2008
     À partir de 13h00 : Accueil

       14h précises :
             1- Présentation du nouveau Conseil Scientifique, des axes actuels de recherche
                 fondamentale, avec Pierre Rustin (Debré - Paris), Hélène Puccio (IGBMC Illkirch),
                 Florence Malissan (Rome), Alexandra Seguin (Jussieu- Paris), Vincent Paupe (Robert Debré,

              2- Présentation de l’équipe ENSAM et projet

              3 - Les centres de réadaptation de Hendaye avec Brigitte Soudrie

              4 - Les essais cliniques :
                   • Le point sur les essais actuels
                     L’essai Idebenone avec Perrine Charles (La Pitié)
                      L’essai Deferiprone avec Arnold Munnich (Necker)
                     L’essai Pioglitazone avec Isabelle Husson (Robert Debré)
                     Les essais cliniques et la recherche dans le monde avec Massimo Pandolfo

              5- Réponses aux questions diverses

                                                    ……Pause café……

       17h 30 : 3 ateliers simultanés
              o Mieux comprendre les travaux actuels de recherche fondamentale avec H Puccio, P
                  Rustin, V Paupe, F Malissan, A Seguin. (2 groupes)

              o Mieux comprendre le déroulement d’un essai clinique avec M Pandolfo, P Charles et I

                                        …Pause détente : poésie, musique…
                                                 20h30 : Repas

April 2008
euro-ATAXIA                                              17                                       Nr. 32 –April 2008

                                                                                               By Marco Meinders
                                                                                           Treasurer euro-ATAXIA

                                                              free to visit our new web site and try the new
“What about an article on our new web site and the            features.
features that can be found there?” I asked our new
editor and before I knew it, I found myself writing           Agenda
this article. If only I had kept my mouth shut…....           Some time ago, I found that Google offered the
                                                              option of creating an agenda and inserting it in a
Yes, in March 2008 I created a new website: euro-             web page. I created one for euro-ATAXIA, which Apart from the usual stuff, I have added           you can view on I also made an
some exciting new features: an agenda, a                      agenda for the ADCA-Association of The
customised search engine and a blog. A further new            Netherlands and yet another one for my personal
exciting feature is that these cannot only be read but        use. Fortunately, I found that it is possible to view
it is now possible that officers and members of our           more then one agenda at the time by combining
federation can actually contribute. I hope that it            several agendas in one view. Want to know more?
supports the entire euro-ATAXIA community.                    Go to more Agenda.
This, however, depends on how you use it. So, feel

                   Figure 1: Sample of 3 different sets of agenda items, viewed in one agenda.

April 2008
euro-ATAXIA                                             18                                        Nr. 32 –April 2008

Customised search engine
Around the same time, I found that Google offers             Anyone can use it and I can authorise other people
the option of creating a customised search engine            to add sites and refinement labels. You can help
and including it in a web site. I experimented a bit         improve this customised search engine by
with it and created a search engine that searches            suggesting web sites. To facilitate this, I have put a
only in a selection of web sites. In this case web           form in the ‘members only’ area of
sites of organisations that represent people with            Want to know more? Go to
hereditary ataxia. You can find it at

      Figure 1: The customised search engine.

Wouldn’t it be nice to be able to share your news
with the entire euro-ATAXIA community? Now
you can! I have created a euro-ATAXIA blog.                            Latest from Santhera on
Anyone can view it. You can subscribe to a web
feed option, you can easily check for any updates.                   MICONOS - Idebenone trial
Posting requires permission from euro-ATAXIA’s
management and is open for officers of the
federation and its members. You can request                  We have just heard from Santhera, the Swiss based
authorisation with one of the forms in the ‘members          company which is conducting the current double
only’ section of                             blind clinical trial using idebenone in FA that they
                                                             have ¾ of the required number of patients recruited.
Editor: Please note new email addresses:                     This trial has centres in Germany, Austria,                                     Netherlands, Belgium France and UK. As you all                                     probably know this clinical trial last 1 year so it will                                     be at least a further year from now until results are We, in euro-ATAXIA,               available.
are indebted to you for the hard work and time you                    If any of our readers wish to participate in
have put into updating our web site. Many thanks.            this trial pleases contact your national Association
                                                             if possible or euro-ATAXIA.

April 2008
euro-ATAXIA   19   Nr. 32 –April 2008

April 2008
euro-ATAXIA                                                                   20                                                     Nr. 32 –April 2008

                                                       Connaître les Syndromes Cérébelleux                    Vereniging Spierziekten Nederland – Werkgroep
DAILY MANAGEMENT                                       7, villa de Gascogne                                   Ataxie van Friedreich
                                                       F-77186 Noisiel                                        Haagweg 306
Helen Rikken, President                                Tel/Fax: +33 1 64681692                                NL-2324 NC Leiden
Hemsterhuisstraat 66                                   E-mail:                            Tel: +31 71 5320660
1056KC Amsterdam, Nederland                                                         E-mail: or
Tel: +31 20 6154502                                                                                 
                                                       Suomen MS-Liitto – Finlands MS-Förbund
                                                       Rare Neurological Disabilities Group                   ADCA-Vereniging Nederland
Dr Francesc Palau Vice-Pesident                        Box 15, Seppäläntie 90                                 Fazantenkamp 839
Scientific Investigator and Director- Genomics         FIN-21250 Masku                                        NL-3607 EC Maarssen
and Proteomics Institute of Biomedicine,               Tel: +358 2 4392111, Fax: +358 2 4392133               Tel: +31 346 563913
C/ Jaume Roig,11                                       E-mail:                         E-mail:
46010 Valencia,                                                           
Tel: +3496 3393773                                                                                            Ataxia UK
E-mail:>                            Deutsche Heredo-Ataxie Gesellschaft e.V.               10 Winchester House, Kennington Park
                                                       Hofener Str. 76                                        Cranmer Road
                                                                                                              London SW9 6EJ
Susan Millman, Secretary                               D-70372 Stuttgart                                      Tel: +44 20 7582 1444
Ataxia UK                                              Tel: +49 711 5504644, Fax: +49 711 8496628             Fax: +44 20 7582 9444
10 Winchester House, Kennington Park                   E-mail:                                 E-mail:
Cranmer Road                                                                 
London SW9 6EJ
Tel: +44 20 7582 1444
                                                       Friedreich’s Ataxia Society Ireland
Fax: +44 20 7582 9444
                                                       San Martino
                                                                                                              CONTACTS IN EUROPE
                                                       Mart Lane
                                                       Foxrock                                                Ataxia Telangiectasia Society
Marco Meinders, Treasurer                              IRL-Dublin 18                                          Rothamsted Research
Antilopespoor 482                                      Tel: +353 1 2894788, Fax: +353 1 2898845               Harpenden AL5 2JQ\
NL-3607 VP Maarssen                                    E-mail:                              United Kingdom
Tel/Fax: +31 346 580417                                                                  Tel: +44 1582 760733
E-mail:                                                                              Fax: +44 1582 760162
                                                       Associazione Italiana per la lotta alle Sindromi       E-mail:
OTHER BOARD MEMBERS                                    Viale S.Lorenzo-Residence ‘Azalea’ 12/E 2
                                                       I-00040 Tor S.Lorenzo-Ardea (Roma)
Peter Reussner                                         Tel: +39 6 91014662
Hinrich-Thiess-Strasse 52f                             E-mail:                           CONTACTS OUTSIDE EUROPE
D-22844 Norderstedt                          
Tel/Fax: +49 40 55446898
E-mail:                                                                            National Ataxia Foundation
                                                       Federación de Ataxias de España (FEDAES)               2600 Fernbrook Ln, Suite 119
                                                       C/. Covadonga, número 22, 2°                           Minneapolis, MN 55447, USA
Barabara Flynn                                         E-33201 Gijón (Asturias)                               Tel: +1 763 5530020
Friedreich’s Ataxia Society Ireland                    Tel: +34 985 097152                                    Fax: +1 763 5530167
San Martino                                            E-mail:                          E-mail:
Mart Lane                                                               
Foxrock, Dublin 18, Ireland.
Tel: +353 1 2894788, Fax: +353 1 2898845               Neurologiskt Handikappades Riksförbund –               Association Canadienne des Ataxies Familiales
E-mail:                              Ataxia Group                                           3800, Rue Radisson, Suite 11
                                                       Box 49084                                              Montréal, Québec H1M 1X6, CANADA
Claudia Baleydier                                      S-10028 Stockholm                                      Tel: +1 514 8991586
Rütihofstras                                           Tel: +46 8 6777010, Fax: +46 8 241315                  E-mail:
Avingon                                                E-mail:                           
E-mail:>                     Association suisse de l’ Ataxie de Friedreich          Friedreich’s Ataxia Research Association
                                                       La Chenaletta                                          (Australasia)
MEMBERS                                                CH-1566 St.-Aubin                                      19/2 Harbour St
                                                       Tel: +41 26 6772256, Fax: +41 26 6773356               Wollongong, NSW 2500
Association Française de l’Ataxie de Friedreich        E-mail:                               Australia
14, Place Brisset                                                                      Tel: +61 2 42251745
F-02500 Hirson                                         Schweizerische Gesellschaft für Muskelkranke           Fax: +61 2 42252779
Tel./Fax: +33 23 586165                                Kanzleistrasse 80                                      E-mail:
E-mail:                                CH-8004 Zürich                               
                                                       Tel: +41 44 2458030, Fax: +41 44 2458031

          euro-ATAXIA Avenue Medicine Derache 36 1050 Bruxelles, Belgium. Website:
          euro-ATAXIA is an international non-profit association registered in Belgium. Charity number: VZW/ASBL 9240/92. Enterprise number: 446777050.
          Bank account: 068-2063656-08 (IBAN: BE63-0682-0636-5608, BIC/SWIFT: GKCCBEBB). Bank: Dexia Bank, Pachecolaan 44, B-1000 Brussels

April 2008
euro-ATAXIA   21   Nr. 32 –April 2008

April 2008

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