A B C D E F G H I J K L M N O
1 ACP Supported Research Projects: Overview
2 Last Updated 7.10.12
Disease or Biological Target Primary Study
6 Title Key Topics Disorder or Gene Investigator Location Approved Status Updated Samples # participants Funded By Results Description
Questcor manufactures a drug called Acthar (native ACTH gel) which is a steroidogenic hormone but may
also have other effects relevant to MS. Scientists at this company are interested in understanding the
Analysis of repository data MTA/DTA efficacy of relapse treatment in patients with relapsing remitting MS, beginning with basic data analysis to
7 for relapse treatment trends Data Visualization MS Heidi Mace Questcor 3/22/2011 Signed 6/7/2011 Data N/A Questcor Pending understand general trends.
Science Commons will be applying and building ontologies in order to structure patient registry data for
Building ontologies to effective query and analysis. By making primary data structured in a clear and consistent way and enabling
structure patient registry Science Product computation researchers easy access we hope to make it easier for computational scientists to apply new
8 data Data Visualization Alan Ruttenberg Commons 5/15/2008 Delivered 8/27/2008 Data N/A - Pending methods to mine this data.
Data visualization experts at KVS, in partnership with Accelerated Cure Project, will produce highly
Knowledge sophisticated systemic maps based upon ACP's repository data and other sources of knowledge about MS.
Generation of interactive Visualization Study in The team's goal is to provide interactive maps of the data and knowledge associated with MS and create a
9 maps using repository data Data Visualization MS Alan Yelsey Systems 3/22/2011 Progress 6/7/2011 Data N/A KVS Pending unique interactive disease framework that produces new insights into MS.
A team at UMBC will be analyzing our repository database using machine learning techniques to find
Application of interactive patterns in the data that may reveal disease subtypes or factors that may cause or be correlated with a
classification and clustering demyelinating disease. Machine learning involves programming computers so that they can automatically
techniques to the repository University of Study in recognize patterns or make decisions based on input they are given. The breadth and diversity of data in
10 database Data Visualization Marie desJardins Maryland 1/26/2010 Progress 2/26/2010 Data N/A - Pending our database makes it a good candidate for analysis by these types of techniques.
Presented at the AAN 2010 Annual
Meeting: Antibodies (gMS[Dx Test)
868 cases (743 MS, 71 Differentiate Newly Diagnosed Relapsing
TM, 13 NMO, 4 ON, 6 Remitting Multiple Sclerosis Patients from
The ability of anti-glucose ADEM, 31 CIS), 140 Other Inflammatory Demyelinating
antibodies to diagnose and Glycominds unrelated controls and Disease Patients within One Year from Glycominds used samples from our repository to validate an assay based on anti-glucose antibodies. This
11 stratify MS patients Diagnostics MS Nir Dotan, PhD Ltd. 7/15/2008 Completed 4/1/2009 Serum 251 related controls Glycominds Diagnosis assay is being developed for use in diagnosing MS and predicting different aspects of the disease.
Samples are being analyzed to confirm blood-based gene expression patterns that discriminate between
Human gene expression for MS and non-MS subjects and could form the basis for a type of diagnostic test. A test capable of providing
developing an MS diagnostic Douglas Bigwood, 70 cases (60 MS and 10 an early and definitive diagnosis of MS and differentiating MS subtypes would not only facilitate earlier
12 signature Diagnostics MS PhD Diogenix, Inc. 9/1/2007 Completed 6/4/2008 RNA TM) and 50 controls Gene Logic Inc. Received delivery of proper therapy but would help alleviate undue anxiety for patients and their families.
Establish biomarker profiles Pfizer 50 cases (MS-RRMS) Scientists at Pfizer are analyzing samples from our repository to gain a better understanding of disease
for patients with Multiple Thomas Misko, Inflammation EDTA and 50 cases (MS- activity and progression in MS. Results from their analysis may help in the development of new therapies
13 Sclerosis Diagnostics MS PhD Research 9/22/2009 Completed 2/3/2010 plasma SPMS) Pfizer Received as well as lead to new methods for monitoring the clinical course of MS.
Results of study indicated gene
expression signatures in blood can Multiple sclerosis is a disease that is difficult to diagnose. Diagnosis in early stages of disease would be
accurately support or exclude diagnosis of facilitated by an accurate blood test and this is key to timely institution of definitive therapies that reduce
MS. "Gene-expression signatures: the rate of disease progression and onset of disability. The goal of our research is to develop an accurate
111 cases (80 MS, 20 biomarkers toward diagnosing multiple blood test for multiple sclerosis and evaluate its performance in different subject populations. A simple in
Creation of in vitro Thomas M. Aune, TM, 6 NMO, 1 ON, 4 sclerosis." Genes and Immunity, vitro diagnostic blood test for MS could decrease the time between the time of onset of clinical symptoms
14 diagnostic blood test for MS Diagnostics MS PhD Vanderbilt 9/17/2008 Completed 4/1/2009 RNA ADEM) NIH STTR grant September 22, 2011. of MS and a definitive diagnosis of MS. It could also aid in excluding someone from having MS.
Antibodies that bind to the molecule aquaporin-4 (AQP4) are often found in the blood of people diagnosed
with NMO. AQP4 is expressed in central nervous system cells called astrocytes, but it is expressed in other
Use PCR based assay to look Guthy-Jackson cells as well. Dr. Levy's project involves measuring levels of a certain form of AQP4 in white blood cells to
for isoforms of aquaporin-4 Michael Levy, MD, Johns Hopkins Distribution 21 cases (5 MS, 5 TM, 11 Charitable see whether these levels change during relapse and remission. This research may lead to development of
15 (AQP4) Diagnostics NMO, RRMS AQP4 PhD University 3/19/2010 Wrap Up 1/6/2011 RNA NMO) and 5 controls Foundation Received a biomarker of NMO disease activity.
In this collaborative project, researchers from UC San Francisco and UT Southwestern will be examining
Determine the affinity and University of how strongly IgG antibodies found in serum of NMO subjects bind to the different forms of aquaporin-4.
efficacy of NMO-IgG binding California San Guthy-Jackson The goal of the research is to correlate binding characteristics of NMO-IgG with various parameters,
to the M1 and M23 isoforms Alan S. Verkman, Francisco, UT Study in 36 cases (24 NMO, 12 Charitable including age, sex, age of onset, years of disease, disease severity, and treatment status. The information
16 of AQP4 Diagnostics NMO NMO-IgG, AQP4 MD, PhD Southwestern 3/18/2010 Progress 1/6/2011 Serum MS) Foundation from these studies may provide a novel serum diagnostic test of disease severity and response to therapy.
Sclerosis Drs. Butzkueven and Gresle will be analyzing serum samples for the presence of phosphorylated
Analyzing presence of Research neurofilament heavy chain (pNF-H), which is a possible marker of neurodegeneration in MS. Levels of pNF-
phosphorylated Helmut Howard Florey Study in 733 cases (MS) and 100 Australia H will be correlated both with disease severity indicators and with the metabolite data that has been
17 neurofilament heavy chain Diagnostics MS pNF-H Butzkueven, MD Institute 4/22/2010 Progress 10/20/2010 Serum controls (MSRA) Pending generated by Dr. Gilles Guillemin's analysis of the same samples.
83 cases (50 MS, 12 Researchers at MSDx have found that levels of a protein called visfatin are elevated in people with MS.
Tysabri x2, 14 Copaxone They are using plasma samples from the Accelerated Cure Project to further explore and validate this
Analysis of visfatin levels in Ramesh C. Study in x2, 7 Avonex x2), 10 finding. Visfatin is associated with obesity and metabolism, but also promotes inflammation, which may
18 plasma samples Diagnostics MS visfatin Nayak, PhD MSDx, LLC 2/8/2010 Progress 1/6/2011 Plasma controls MSDx Pending form the basis of its potential connection with MS.
Researchers at the Partners MS Center have been working to find biomarkers that can diagnose MS,
Brigham & 193 cases (147 MS, 24 predict clinical course, and gauge risk of MS. Samples from the Accelerated Cure Project repository will be
Analysis of immune-related Philip DeJager, Women's Study in TM, 22 CIS) and 100 used to validate a set of 22 biomarkers involved in inflammation that could aid in establishing a diagnosis of
19 biomarkers Diagnostics MS MD, PhD Hospital 9/16/2009 Progress 1/6/2011 Serum controls - Pending MS.
This is an extension of the study "Human gene expression for developing an MS diagnostic signature":
Samples are being analyzed to confirm blood-based gene expression patterns that discriminate between
MS and non-MS subjects and could form the basis for a type of diagnostic test. A test capable of providing
Development of an FDA- Douglas Bigwood, Study in an early and definitive diagnosis of MS and differentiating MS subtypes would not only facilitate earlier
20 approved MS diagnostic test Diagnostics MS PhD Diogenix, Inc. 1/6/2009 Progress 6/25/2009 PaxGene pending Diogenix Pending delivery of proper therapy but would help alleviate undue anxiety for patients and their families.
The ability of anti-glucose
antibodies to monitor MS The Glycominds team has developed an MS diagnostic assay based on anti-glucose antibodies. They are
disease activity and Glycominds Study in 271 cases (MS, 2 now interested in learning whether this assay could potentially also be used to monitor disease activity and
21 treatment efficacy Diagnostics MS Nir Dotan, PhD Ltd. 5/20/2011 Progress 6/7/2011 Serum timepoints each) Glycominds Pending severity, as well as whether changes in antibody levels reflect treatment efficacy.
MSDx is a start-up company that is developing a new technique for diagnosing and monitoring MS. This
technique analyzes the contents of blood cells called phagocytes for evidence of brain tissue debris. MSDx
110 cases (75 MS, 15 plans to develop this technique so that it can be used to help diagnose MS, monitor disease activity to
Development of a diagnostic Ramesh C. Study in CIS, 10 NMO, 10 ADEM) Company MSDx, prevent relapse, and monitor drug effects to distinguish responders and non-responders. Our blood
22 product for MS Diagnostics MS Nayak, PhD MSDx, LLC 9/1/2009 Progress 2/3/2010 PBMCs and 10 controls LLC Pending samples will be used to further refine this technique.
A B C D E F G H I J K L M N O
10 cases (1st phase of 3
phase study) 20 cases During our lifespan, everyone produces antibodies directed against human antigens (proteins). Usually,
(MS) and 20 controls these so-called autoantibodies do not cause disease. However, in so-called autoimmune diseases the
(2nd phase of 3 phase autoantibodies cause clinical symptoms, i.e., a disease. Protagen is developing a test to diagnose MS
Development of a test for in- CIS, RRMS, Stefan Mullner, Study in study) 15 controls (2a based on the patterns of autoantibodies found in serum samples. Ideally this test will also distinguish
23 vitro diagnosis of MS Diagnostics SPMS PhD Protagen AG 5/20/2009 Progress 1/6/2011 Serum phase of 3 phase study) Protagen AG Pending among the clinical subtypes CIS, RRMS and SPMS.
The company SomaLogic has developed a novel technology platform for finding protein biomarkers in
Identify biomarkers that can 100 cases (50 MS, 3 plasma and serum samples. Samples from our repository will be analyzed with this platform to identify
diagnose MS and distinguish Sally K. Nelson, Study in NMO, 4 ON, 38 TM, 5 biomarkers that can diagnose MS and distinguish its different forms, measure a person's response to
24 its forms Diagnostics MS PhD SomaLogic 11/24/2009 Progress 1/6/2011 Serum ADEM) and 50 controls SomaLogic, Inc. Pending treatment, and provide insight into progression and severity of the disease.
Data Research Researchers at St. Vincent's propose to demonstrate that tryptophan metabolism plays an important role in
The role of tryptophan Gilles J. Analysis 733 cases (MS) and 100 Australia multiple sclerosis (MS). This project may open a new and important therapeutic door for MS using different
25 metabolism in MS Disease Properties MS Guillemin, PhD St. Vincent's 6/20/2008 Completed 4/1/2009 Serum controls (MSRA) Received specific inhibitors already available from drug companies for other brain diseases.
Results to date:
- Genetic analysis of aquaporin-4 in
neuromyelitis optica. Neurology.
September 20, 2011.
- HLA DRB1*1501 tagging rs3135388
polymorphism is not associated with
neuromyelitis optica. Multiple Sclerosis,
June 30 2010 (Epub).
- Presentation at AAN 04/09: "The MS-
associated gene HLA DRB1*1501 was not
found to be a risk factor for NMO"
- Presentation at AAN 2009: "Two
Different Arg19 Mutations in the N-
terminus of Aquaporin-4 Suggest a
Molecular Mechanism for Susceptibility to
Multiple - Presentation at ECTRIMS 2009: Researchers at Mayo Clinic have discovered that a large number of patients with neuromyelitis optica, also
Sclerosis "Genetic analysis of neuromyelitis optica: known as optico-spinal MS, have antibodies in the blood against a protein in the nervous system called
International two different Arg19 mutations in the N- aquaporin-4. The Mayo clinic researchers are studying the gene that produces this protein. They will use
Genetic and immunogenic Federation, terminus of aquaporin-4 suggest a repository samples to find out whether and how mutations in this gene are linked with development of the
analysis of AQP4 in Brian Mayo molecular mechanism for susceptibility to disease, which could determine prevention initiatives. Other genetic variants will also be examined for
26 neuromyelitis optica Genetics NMO AQP-4 Weinshenker, MD Mayo Clinic 11/9/2007 Completed 4/1/2009 DNA 5 cases (NMO) Foundation NMO" involvement in NMO.
Results from study implicate genetic and Researchers at UCI have found that genetic deficiency in a pathway that controls the addition of specific
environmental factors that affect protein sugars to proteins leads to immune hyperactivity and spontaneous development of an MS-like disease in
871 cases (746 MS, 13 glycosylation as playing a role in MS. mice. They have identified two genetic defects in humans that alter the same glycosylation pathway.
NMO, 4 ON, 69 TM, 8 - Genetics and the environment converge Repository samples will be used in conjunction with other samples to identify additional genetic changes
Gene alleles that affect Glycosylation Michael University of ADEM, 31 CIS) and 18 National Multiple to dysregulate N-glycosylation in multiple that lead to the same defect in protein glycosylation and show that these can also be treated by metabolic
27 protein glycosylation Genetics MS pathway Demetriou, MD California Irvine 4/4/2008 Completed 6/7/2011 DNA unrelated controls Sclerosis Society sclerosis. Nat Commun . 2011. therapy.
No significant differences found in
frequencies of Prnp129 genotypes in
Partly covered by PPMS subjects compared with controls.
a Merit Review - No association between genetic Around 10% of people with MS have the primary progressive form of the disease, which can have a severe
Grant to Dr. polymorphism at codon 129 of the prion course and is not affected by any of the current MS disease-modifying therapies. Mutations in a gene
University of Stuve by the protein gene and primary progressive called PrP (prion protein) have been found to increase the severity of other neurological diseases such as
Determine role of prion Olaf Stuve, MD, Texas Department of multiple sclerosis. Arch Neurol. February Alzheimer's disease. A team at UTSW will analyze samples from subjects with PPMS for the presence of a
28 protein in patients with PPMS Genetics MS PrP PhD Southwestern 10/20/2010 Completed 5/17/2011 DNA 69 cases (MS) Veterans Affairs. 2011. PrP mutation that has been associated with severity in another neurodegenerative disease.
Guthy-Jackson Scientists at 23andMe will be screening NMO samples from the repository using a GWAS (genome wide
Whole-genome screening of Charitable association study) approach. The data generated may help to identify genetic variants that are more
29 NMO samples Genetics NMO Joyce Tung 23andMe 3/22/2011 Completed 6/7/2011 DNA 115 cases (NMO) Foundation Pending common in people who have NMO than in people who do not.
Samples will be used to explore the role of Vitamin D as it relates to MS. Researchers will be considering
genes involved in Vitamin D metabolism and investigating how these might be related to an individual's risk
Investigating the involvement Harvard School of MS. By considering potential genetic factors, researchers may be able to determine if certain individuals
of Vitamin D related genes Alberto Ascherio, of Public 650 cases (MS) and 243 NIH (Grant: would benefit even more from increased Vitamin D and potentially further elucidate what the underlying
30 and MS Genetics MS MD, PhD Health 3/10/2008 Completed 6/7/2011 DNA controls R01) Received biological effect of Vitamin D may be as it relates to MS.
Several genetic associations discovered or
- Genetic variation in the IL7RA/IL7
pathway increases multiple sclerosis
susceptibility. Human Genetics. January
30 2010 (Epub)
- Meta-analysis of genome scans and
replication identify CD6, IRF8 and
TNFRSF1A as new multiple sclerosis
susceptibility loci. Nature Genetics. July
- IL12A, MPHOSPH9/CDK2AP1 and
RGS1 are novel multiple sclerosis
susceptibility loci. Genes and Immunity.
June 17 2010 (Epub).
- Comprehensive follow-up of the first Repository samples were used to validate the results of a previous genome scan conducted on 1000 MS
735 cases (640 MS, 11 genome-wide association study of multiple subjects. The scan was done to discover genetic variants that affect the course of disease in patients with
Validation of genetic NMO, 3 ON, 54 TM, 4 sclerosis identifies KIF21B and TMEM39A MS. The genetic variants may help explain why MS progresses differently in its patients. Samples are also
determinants of disease Philip DeJager, ADEM, 23 CIS) and 242 Accelerated as susceptibility loci. Human Molecular being used in projects performed by the International MS Genetics Consortium to explore and confirm
31 course in MS Genetics MS MD, PhD Broad Institute 2/22/2008 Completed 6/25/2009 DNA controls Cure Project Genetics . December 23 2009 (Epub). genetic associations with MS.
A B C D E F G H I J K L M N O
This genome-wide association study
replicated almost all previously suggested
associations and identified at least a
further 29 novel loci associated with MS
susceptibility. Genes involved in immune
system figured significantly in list of
results. Further progress made on
understanding the contribution of HLA-
An international DRB1 to MS risk. The Wellcome Trust is funding an international collaboration to perform whole-genome screens on several
collaboration to perform - Genetic risk and a primary role for cell- thousand MS samples. Accelerated Cure Project has contributed DNA samples to this effort, which aims to
whole-genome screens on Philip DeJager, Wellcome mediated immune mechanisms in multiple screen MS samples for genes that affect the risk of MS. The whole-genome screens could allow a better
32 MS samples Genetics MS MD, PhD Trust Project 5/22/2008 Completed 6/7/2011 DNA 574 cases (MS) Wellcome Trust sclerosis. Nature. August 11, 2011. understanding of the causes of MS.
Two sets of results from study published
identifying gene variants that appear to
affect MS risk and severity.
National Multiple - Association of common mitochondrial
Sclerosis Society DNA variants with multiple sclerosis and
(Grants: systemic lupus erythematosus. Clinical
RG3521A6/T Immunolology. October 2008. Researchers at the Syracuse VA Medical Center used our samples to explore gene variations in MS
SUNY Upstate and NMSS - CCL genes in multiple sclerosis and subjects and unaffected healthy individuals to determine how variations in inflammatory genes contribute to
Variations in inflammatory Bernadette Medical PP1334), systemic lupus erythematosus. Journal of the development of MS. They also studied whether these genetic variations correlate with disease severity.
33 genes Genetics MS Kalman, MD University 12/1/2006 Completed 5/27/2008 DNA 150 cases (MS) Serono Inc. Neuroimmunology. August 30 2008. Specific gene variants could explain why some MS patients develop more severe symptoms than others.
Association of CD24 gene University of Study in Dr. Liu and his colleagues are validating previous results in mouse models and human samples suggesting
34 variants with MS Genetics MS CD24 Yang Liu, MD Michigan 1/21/2011 Progress 6/7/2011 DNA 500 cases (MS) - Pending that variants in the CD24 gene may affect the risk of MS.
A regulatory protein called SHP-1 can control the inflammatory activities of immune cells. People with MS
have been found to be deficient in SHP-1 compared with controls, and this deficiency has been shown to
Determining information on SUNY Upstate contribute to the increased expression of pro-inflammatory genes. This research study will explore whether
DNA methylation in the SHP-1 Medical Study in 50 cases (MS) and 200 a certain type of modification (called methylation) to the SHP-1 gene is responsible for decreased SHP-1
35 gene Genetics MS SHP-1 Paul Massa, PhD University 7/24/2009 Progress 12/16/2009 DNA controls NIH Pending levels in people with MS. We are providing DNA samples to support this study.
Whole blood gene expression The goal of this research proposal is to investigate the whole blood gene expression profiles of MS patients
profiling of samples from and specifically Secondary Progressive MS (SPMS) patients to better understand the molecular features of
secondary progressive MS SPMS, Jadwiga Study in 214 cases (MS) and 30 SPMS versus Relapsing-Remitting MS (RRMS). We believe that a better understanding of the involvement
36 subjects Genetics RRMS Bienkowska Biogen Idec 1/21/2011 Progress 6/7/2011 PaxGene controls Biogen IDEC Pending of the immune system in SPMS could lead to new therapies and improve lives of MS patients.
The production of proteins in cells is affected by many factors, one of which is the presence of a type of
225 cases (MS, NMO, molecule called micro RNA (miRNA). miRNAs are small RNA molecules that affect the stability and
Find gene expression Eric M. Eastman, Study in TM, ADEM, ON) and 114 translation of messenger RNA (mRNA) molecules. Diogenix is including miRNA analysis in their ongoing
37 patterns by analyzing miRNA Genetics MS PhD Diogenix, Inc. 11/20/2009 Progress 1/6/2011 Serum controls Diogenix Pending efforts to find gene expression patterns that can diagnose and classify MS.
Some studies indicate that familial MS may take a more severe course than non-familial MS, and therefore
Investigation of familial MS different mechanisms may underlie familial MS and sporadic MS. Dr. Han's team plans to sequence the
through genome sequencing genome in familial MS and also screen samples on the functional level by using protein arrays. By
and functional protein Study in DNA and 14 cases (MS and TM) comparing both genomic data and protein array data, they hope to find potential genetic markers and/or
38 screening Genetics MS May Han, MD Stanford 5/20/2011 Progress 6/7/2011 serum and 7 controls Internal funding Pending promising pathogenic proteins playing roles in familial MS.
A research team from Oklahoma Medical Research Foundation (OMRF) used samples collected during
Poster/findings presented at Federation the pilot phase of the repository to study the relationship between the Epstein-Barr virus (EBV) and MS.
of Clinical Immunology Societies (FOCIS) Building upon their prior work studying EBV and systemic lupus erythematosus (SLE), the researchers
annual meeting in June 2006. Based on focused on studying the response of MS subjects to EBV, based on the hypothesis that the immune
the samples from MS subjects and system response of MS patients to EBV differs from that of non-affected individuals, while their responses
Oklahoma Oklahoma unaffected controls studied, it was to other common viruses (chickenpox, herpes simplex 1 and 2, etc.) are quite similar. Based on the
Humoral response of MS Medical Medical reported that MS subjects did appear to samples from MS subjects and unaffected controls that they studied, they reported that MS subjects did
patients to the Epstein-Barr Epstein-Barr virus, Judith A. James, Research 15 cases (MS) and 7 Research have a unique response to the major appear to have a unique response to the major nuclear antigen of EBV, EBNA-1. With further research,
39 virus Immunology MS EBV, EBNA-1 MD, PhD Foundation 9/26/2005 Completed 12/29/2007 Serum controls Foundation nuclear antigen of EBV, EBNA-1 this unique response could reveal EBV as a possible cause of MS.
Repository samples will be used in the largest screen for active pathogens (viruses, bacteria, and fungi)
Identification of a host- ever undertaken in subjects with MS. Additionally, the human gene expression levels of these subjects will
pathogen interaction in DNA and 20 cases (MS) and 20 be analyzed in order to identify a pattern of host-pathogen interactions that are present in people with MS.
40 people with MS Immunology MS Viktor Stolc, PhD NASA 3/22/2007 Completed 4/1/2009 RNA controls NASA Pending If a pattern is found, it could explain how MS is caused.
Researchers at the Stanford School of Medicine are using samples collected during the pilot phase of the
repository to assess the presence of antibodies that target the blood-brain barrier (BBB). Their research is
Data focused on the role of the BBB in the progression of MS and whether the BBB is the target of an immune
Antibodies to blood-brain Ben Barres, MD, Analysis in 25 cases (MS) and 13 Myelin Repair response which may lead to MS. If the BBB plays a significant role in MS, it may enable better treatments
41 barrier Immunology MS Blood brain barrier PhD Stanford 7/5/2006 Progress 10/16/2007 Serum controls Foundation Pending and possible cures to be discovered.
Molecular Studies of Researchers at The Scripps Research Institute are developing a mouse model of autoimmunity to AQP4,
Neuromyelitis Optica in The Scripps Guthy-Jackson which can be used to better understand the human disease neuromyelitis optica (NMO) and develop novel
Mouse Models of Aquaporin- Roberto Baccala, Research Study in 5 cases (NMO) and 5 Charitable therapies for it. Serum samples from subjects with NMO and controls will be used to develop and validate
42 4 Autoimmunity Immunology NMO AQP4 PhD Institute 5/20/2009 Progress 6/25/2009 Serum controls Foundation Pending this mouse model.
An antibody to a protein called aquaporin-4 (AQP4) has been found in a majority of people with
neuromyelitis optica (NMO). Discovery of this antibody, NMO-IgG, has improved the diagnosis of NMO,
provided new insights into how the disease develops, and suggested new therapeutic strategies. A
research team at UCSF will investigate several key aspects of the roles of AQP4 and NMO-IgG at the
Determining whether NMO- University of Guthy-Jackson molecular level and the astrocyte cell level. They will determine whether the antibody to AQP4 affects
IgG affects important Alan S. Verkman, California San Study in 10 cases (NMO) and 5 Charitable important functions of AQP4 in cells, such as allowing water through cell membranes, assembling into
43 functions of AQP4 Immunology NMO AQP-4, NMO-IgG MD, PhD Francisco 3/17/2009 Progress 4/22/2009 Serum controls Foundation Pending structured arrays, and facilitating cell movement.
Dr. Waldman and his team have discovered the presence of autoantibodies that bind to endothelial cells
(the cells that line the inner surface of blood vessels) in the blood of patients with several diseases,
36 cases (10 RRMS 2 including Susac's syndrome (SS). Their experiences with SS have led them to hypothesize that endothelial-
Detection of autoantibodies timepoints each, 10 reactive autoantibodies may also contribute to the disease process in MS, as well as other disorders such
that bind to endothelial cells SPMS, 4 ADEM, 4 NMO, as TM, NMO, ADEM and ON, possibly by disruption of the blood-brain barrier. They plan to apply their
in serum from people with TM, NMO, W. James The Ohio State Study in 4 ON, 4 TM) and 10 sensitive antibody-detection methods to serum samples from our repository to determine whether these
44 demyelinating diseases Immunology ADEM, ON Blood brain barrier Waldman, PhD University 7/21/2011 Progress 9/29/2011 Serum controls NIH/NINDS Pending antibodies are indeed present.
80 cases (MS) and 80
controls (EBV study), 854
cases (654 MS, 78 NMO,
122 TM) and 215 controls
(DNA), 1550 cases (1238 Epstein-Barr virus (EBV) and infectious mononucleosis have both been associated with MS in numerous
MS, 100 NMO, 11 ON, studies, but the mechanism by which EBV affects MS risk is not yet understood. Dr. Ascherio and his team
Exploration of EBV immune Harvard School 133 TM, 22 ADEM, 46 are analyzing repository samples and data from a number of standpoints to further explore the EBV/MS
response and interactions Alberto Ascherio, of Public Study in DNA, serum, CIS) and 464 controls connection. For instance, they are determining whether genetic and environmental factors associated with
45 with other MS risk factors Immunology MS Epstein-Barr virus MD, PhD Health 5/6/2010 Progress 6/7/2011 whole blood (serum) ACP Pending MS risk correlate with antibody levels to EBV.
A B C D E F G H I J K L M N O
Testing MS and control Drs. Warmoth and Collins are testing a hypothesis that the infectious organism Mycobacterium avium
samples for exposure to Mycobacterium Michael Warmoth, Spectrum Study in 30 cases (MS) and 20 could be a trigger of MS. In this pilot study, they will test serum samples from MS and control subjects for
46 Mycobacterium avium Immunology MS avium MD Health 12/3/2010 Progress 5/17/2011 Serum controls Internal funding Pending evidence of infection with this bacteria.
Testing the hypothesis that
unnatural amino acid Dr. Butte is conducting a pilot study to test the hypothesis that the incorrect incorporation of an amino acid
misincorporated into myelin CTSA-sponsored found in certain foods into myelin basic protein (MBP) changes the structure of MBP, making it subject to
basic protein makes it Myelin basic Manish J. Butte, Study in project called immune attack. The experiment will test how T cells from the blood of people with MS will react when
47 immunogenic Immunology MS protein MD, PhD Stanford 5/18/2010 Progress 1/6/2011 Whole blood 11 cases (MS), 8 controls SPAR Pending exposed to this altered form of MBP.
Development of a PML risk Dr. Calabresi is collaborating with Dr. Susan Goelz at Biogen Idec to test for JC virus antibodies in banked
prediction method using JCV Peter Calabresi, Johns Hopkins Study in sera from MS patients who have been treated with natalizumab and subsequently developed PML. This
48 antibodies Immunology MS MD University 1/21/2011 Progress 6/7/2011 Serum 1 case (MS) to date Biogen IDEC Pending effort will contribute to methods for predicting risk of developing PML.
This study will analyze the ACP database to determine if early life exposure to siblings impacts the risk of
developing MS. Some studies have found a correlation between early life exposure to infants and
decreased risk of MS which may relate to the hygiene hypothesis of autoimmune diseases. According to
Determine if early life Benjamin M. University of the theory, having exposures to viral infections during development reduces the risk of an autoimmune
exposure to siblings impacts Greenberg, MD, Texas Study in condition such as MS. Determining if this is true in a large scale survey could significantly impact our
49 the risk of MS Immunology MS MHS Southwestern 10/7/2009 Progress 2/3/2010 Data N/A - Pending understanding of the triggers for these diseases.
Immune cells called neutrophils have been identified in NMO lesions but are scarce in lesions of other
Marios St. George's, Guthy-Jackson demyelinating diseases such as MS and ADEM. These infiltrating neutrophils secrete elastase, which
Measurement of neutrophil Papadopoulos, University of Study in 55 cases (20 MS and 35 Charitable damages the brain. This study aims to evaluate whether neutrophil elastase concentration and activity are
50 elastase in NMO samples Immunology NMO MD FRCS(SN) London 1/21/2011 Progress 6/7/2011 Plasma NMO) Foundation Received elevated in NMO patients during an acute attack, but not in NMO patients in remission or in MS patients.
Recent studies of brain tissue have demonstrated that the brains of people with secondary progressive MS
(SPMS) may feature subtle but diffuse inflammation. Other experiments analyzing brains of patients with
SPMS have shown signs of decreased oxygen, otherwise termed "hypoxic" injury. Dr. Birnbaum and his
team will investigate serum samples from people with MS and controls to see whether antibodies
Neurodegeneration in people Julius Birnbaum, Johns Hopkins 619 (MS) and all available associated with hypoxic injury are present, along with typical risk factors of blood vessel injury, to explore
51 with SPMS Risk Factors SPMS MD, MHS University 12/31/2008 Completed 4/22/2009 Serum controls NIH K12 grant Pending the possibility that injury to blood vessels may trigger neurodegeneration in people with SPMS.
Mutations in mitochondrial DNA (mtDNA) have been associated with severe optic nerve injury in patients
with a disorder known as Leber's Hereditary Optic Neuropathy (LHON), and the same mutations also have
been identified in very rare MS patients, usually in association with severe optic nerve involvement.
Numerous prior studies have examined the possibility that LHON-associated mtDNA mutations or other
382 cases (346 MS, 6 Canadian mtDNA variants might influence the risk of MS or clinical features of MS, but a definitive answer is lacking.
Beth Israel NMO, 2 ON, 19 TM, 1 Pediatric As a result, researchers at Beth Israel Deaconess Medical Center are using samples to examine mtDNA
Variations in mitochondrial David K. Simon, Deaconess ADEM, 8 CIS) and 31 Demyelinating variants hypothesized to play a role in the risk of MS. The results could help identify people who are at
52 DNA Risk Factors LHON MD, PhD Medical Center 7/25/2007 Completed 6/7/2011 DNA controls Disease Initiative Received higher risk for MS and could also help advance our understanding of the causes and treatment of MS.
Regression analysis of This research project analyzed data from our repository database concerning different genetic and
genetic and environmental St. John's St. John's environmental factors from MS and non-MS subjects, and explored what this information could reveal
53 MS risk factors Risk Factors MS Xuyang Tang University 7/8/2008 Completed 7/15/2008 Data Not Applicable University Received about risk factors for MS.
Whether physical trauma plays a role in causing MS has been debated since the earliest descriptions of
the illness, and the role of trauma in the development of MS has been the subject of many studies over the
Exploration of trauma as an last 50 years. Investigators from Athabasca University propose to analyze our repository database and
environmental factor that Carole Lunny, Athabasca Study in include this information in a meta-analysis currently underway to further contribute to answering the
54 might trigger onset of MS Risk Factors MS MHS University 7/22/2010 Progress 1/6/2011 Data N/A Internal funding Pending question of whether trauma is associated with onset of MS.
Researchers at Montreal Neurological Institute (MNI) are using samples collected during the pilot phase of
Montreal the repository to investigate a number of possible myelin damage markers that may be detectable in the
Investigation of myelin Treatments/Thera David R. Colman, Neurological 28 cases (MS) and 15 Myelin Repair serum of MS subjects. More knowledge of myelin damage markers could lead to more effective
55 damage markers peutic Targets MS PhD Institute 4/18/2006 On Hold 5/22/2006 Serum controls Foundation Pending treatments.
Antibodies to the protein aquaporin-4 are commonly found in people diagnosed with NMO, and are thought
High-throughput screening The Scripps Guthy-Jackson to cause or contribute to the disease. This study will use a high-throughput screening system to identify
study to identify peptoid Treatments/Thera Roberto Baccala, Research Study in 91 cases (10 MS, 81 Charitable molecules that can bind to or block anti-AQP4 autoantibodies. The results of this research could help with
56 ligands to anti-AQP4 peutic Targets NMO AQP-4, NMO-IgG PhD Institute 5/18/2010 Progress 1/6/2011 Serum NMO) and 20 controls Foundation Pending diagnosis, development of animal models, and, more importantly, the treatment of NMO.
GeNeuro SA is a Swiss startup company developing an innovative disease modifying therapy for the cure
of Multiple Sclerosis (MS). To this end, the company has generated a monoclonal antibody targeting the
Multiple Sclerosis Related Retrovirus (MSRV) which GeNeuro considers to be a central factor of the
Measurement of Intracellular disease. GeNeuro will use samples from the ACP Repository to validate previous data on the frequency of
mRNA levels of MSRV Treatments/Thera Francois Curtin, Study in 10 cases (MS), 10 MSRV and to investigate its presence in people with different forms of MS and in different geographic
57 envelope protein in PBMCs peutic Targets MS MSRV MD GeNeuro SA 10/19/2010 Progress 1/6/2011 PBMCs controls Internal funding Pending locations.
NMO-IgG is an antibody against aquaporin-4 that has been found in the serum of people with
Characterization of the neuromyelitis optica (NMO). It is thought to contribute directly to the disease but how and why it is
pathogenic NMO-IgG and the RNA, serum, PBMCs, 40 Guthy-Jackson produced by B cells is unknown. Dr. Han's team will use DNA, RNA, serum, and cell samples to explore
B cell populations producing Treatments/Thera Study in cases (30 NMO and 10 Charitable this question. Results of this research could potentially help lead to treatments that target these antibodies
58 NMO-IgG peutic Targets NMO NMO-IgG May Han, MD Stanford 11/23/2010 Progress 5/17/2011 DNA MS) Foundation Pending and/or B cells.
Effect of treatment Benjamin M. University of A team from UT Southwestern is conducting research to analyze the impact of therapeutic intervention in
intervention in TM and NMO Treatments/Thera Greenberg, MD, Texas Study in TM and NMO patients. In particular, they would like to learn whether timely treatment administration could
59 on disease outcome peutic Targets TM, NMO MHS Southwestern 5/18/2010 Progress 6/4/2010 Data N/A - Pending help prevent disability. They will be analyzing data from our repository as part of their investigation.