Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias
| Status: | Recruiting |
|---|---|
| Conditions: | Neurology |
| Therapuetic Areas: | Neurology |
| Healthy: | No |
| Age Range: | 6 - Any |
| Updated: | 1/2/2019 |
| Start Date: | April 2010 |
| End Date: | July 2019 |
Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) to Study Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias (SCA)
Spinocerebellar ataxias (SCA) are genetic neurological diseases that cause imbalance, poor
coordination, and speech difficulties. There are different kinds of SCA and this study will
focus on types 1, 2,3, and 6 (SCA 1, SCA 2, SCA 3 , also known as Machado-Joseph disease and
SCA 6). The diseases are rare, slowly progressive, cause increasingly severe neurological
difficulties and are variable across and within genotypes. The purpose of this research study
is to bring together a group of experts in the field of SCA for the purpose of learning more
about the disease.
The research questions are:
1. How does your disease progress over time?
2. What are the best ways to measure the progression?
3. Do some genes, other than the gene that is abnormal in your disease, have any effect on
the way the disease behaves?
This is a nationwide study and we expect that 800 patients will participate all over the USA.
The participants will be in the study for an indeterminate period of time. Study visits will
be done every 6 or 12 months depending on the participating site.
coordination, and speech difficulties. There are different kinds of SCA and this study will
focus on types 1, 2,3, and 6 (SCA 1, SCA 2, SCA 3 , also known as Machado-Joseph disease and
SCA 6). The diseases are rare, slowly progressive, cause increasingly severe neurological
difficulties and are variable across and within genotypes. The purpose of this research study
is to bring together a group of experts in the field of SCA for the purpose of learning more
about the disease.
The research questions are:
1. How does your disease progress over time?
2. What are the best ways to measure the progression?
3. Do some genes, other than the gene that is abnormal in your disease, have any effect on
the way the disease behaves?
This is a nationwide study and we expect that 800 patients will participate all over the USA.
The participants will be in the study for an indeterminate period of time. Study visits will
be done every 6 or 12 months depending on the participating site.
If you decide to participate in this study, we will collect 1 tablespoon (15 milliliters) of
blood during the first/screening visit in order to extract your DNA. The sample will be sent
to the research laboratory of Dr Stefan Pulst at the University of Utah for the study of
genetic factors that modify the course of your disease.
As part of this study, we would like to put some of your blood in a tissue repository.
Submission of your sample to the repository may give scientists valuable research material
that can help them to develop new diagnostic tests, new treatments, and new ways to prevent
diseases. Scientists will not use your sample, or material isolated from it, for commercial
products or services. Your blood will be kept by Dr. Stefan Pulst.
Your sample will not have your name or other personal information linked to it. Your sample
may be shared with researchers at the University of Utah and at other institutions. The only
information we will keep with the sample is your age, what disease you have, the age at onset
of your disease and the duration of the disease. The principal investigator at your site will
be the only person who can link the sample to you. You can have your sample removed from the
bank later by written request to your PI.
You do not have to participate in the genetic modifier study or the tissue repository to be
in the remaining part of this study.
You will also be asked to complete several assessments that include questionnaires, motor
function test, a neurological exam and a physical exam.
blood during the first/screening visit in order to extract your DNA. The sample will be sent
to the research laboratory of Dr Stefan Pulst at the University of Utah for the study of
genetic factors that modify the course of your disease.
As part of this study, we would like to put some of your blood in a tissue repository.
Submission of your sample to the repository may give scientists valuable research material
that can help them to develop new diagnostic tests, new treatments, and new ways to prevent
diseases. Scientists will not use your sample, or material isolated from it, for commercial
products or services. Your blood will be kept by Dr. Stefan Pulst.
Your sample will not have your name or other personal information linked to it. Your sample
may be shared with researchers at the University of Utah and at other institutions. The only
information we will keep with the sample is your age, what disease you have, the age at onset
of your disease and the duration of the disease. The principal investigator at your site will
be the only person who can link the sample to you. You can have your sample removed from the
bank later by written request to your PI.
You do not have to participate in the genetic modifier study or the tissue repository to be
in the remaining part of this study.
You will also be asked to complete several assessments that include questionnaires, motor
function test, a neurological exam and a physical exam.
Inclusion Criteria:
- Presence of symptomatic ataxic disease
- Definite molecular diagnosis of SCA 1, 2,3,or 6 either in the subject or another
affected family member
- Willingness to participate in the study and ability to give informed consent.
- Age 6 years and above
Exclusion Criteria:
- Known recessive, X-linked and mitochondrial ataxias
- Exclusion of SCA 1, 2, 3 and 6 by previous DNA testing,
- A lack of willingness to participate in the study
We found this trial at
12
sites
116th St and Broadway
New York, New York 10027
New York, New York 10027
(212) 854-1754
Principal Investigator: Pietro Mazzoni, M.D., PhD.
Phone: 212-305-5558
Columbia University In 1897, the university moved from Forty-ninth Street and Madison Avenue, where it...
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201 Dowman Dr
Atlanta, Georgia 30303
Atlanta, Georgia 30303
(404) 727-6123
Principal Investigator: George Wilmot, M.D., PhD.
Phone: 404-728-4909
Emory University Emory University, recognized internationally for its outstanding liberal artscolleges, graduate and professional schools,...
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University of Chicago One of the world's premier academic and research institutions, the University of...
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Gainesville, Florida 32610
(352) 392-3261
Principal Investigator: S H Subramony, MD
Phone: 352-273-5550
University of Florida The University of Florida (UF) is a major, public, comprehensive, land-grant, research...
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Los Angeles, California 90095
310-825-4321
Principal Investigator: Susan Perlman, M.D.
Phone: 310-206-8153
University of California at Los Angeles The University of California, Los Angeles (UCLA) is an...
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Univ of Minnesota With a flagship campus in the heart of the Twin Cities, and...
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University of Utah Research is a major component in the life of the U benefiting...
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University of South Florida The University of South Florida is a high-impact, global research university...
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University of Michigan The University of Michigan was founded in 1817 as one of the...
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1101 East 33rd Street
Baltimore, Maryland 21287
Baltimore, Maryland 21287
Principal Investigator: Chiadi Onyike, M.D., MHS
Phone: 410-502-5816
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Boston, Massachusetts 02115
Principal Investigator: Jeremy Schmahmann, M.D.
Phone: 617-726-3216
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San Francisco, California 94143
Principal Investigator: Michael Geschwind, MD
Phone: 415-476-2909
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