Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias
NCT ID: NCT01060371
Last Updated: 2023-06-01
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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UNKNOWN
800 participants
OBSERVATIONAL
2010-04-30
2024-05-19
Brief Summary
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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.
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Detailed Description
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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.
Conditions
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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Spinocerebellar Ataxia 1
If you decide to participate in this study, the following study procedures will be performed:
* blood collection for DNA testing, analysis (genetic modifier study) and banking
* Medical history
* Physical exam
* Scale for Assessment and Rating of Ataxia (SARA)
* Timed measure of your hand dexterity and walking (25 ft)
* Questionnaire about your daily living activities, your physical and mental quality of life and assessment of depression.
* Disease stage estimation by the clinician.
* Demographics and disease-related information (i.e. age, sex, race, age at disease onset, disease duration)
* Review of your medical records
All Participants
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.
Spinocerebellar Ataxia 2
If you decide to participate in this study, the following study procedures will be performed:
* blood collection for DNA testing, analysis (genetic modifier study) and banking
* Medical history
* Physical exam
* Scale for Assessment and Rating of Ataxia (SARA)
* Timed measure of your hand dexterity and walking (25 ft)
* Questionnaire about your daily living activities, your physical and mental quality of life and assessment of depression.
* Disease stage estimation by the clinician.
* Demographics and disease-related information (i.e. age, sex, race, age at disease onset, disease duration)
* Review of your medical records
All Participants
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.
Spinocerebellar Ataxia 3
If you decide to participate in this study, the following study procedures will be performed:
* blood collection for DNA testing, analysis (genetic modifier study) and banking
* Medical history
* Physical exam
* Scale for Assessment and Rating of Ataxia (SARA)
* Timed measure of your hand dexterity and walking (25 ft)
* Questionnaire about your daily living activities, your physical and mental quality of life and assessment of depression.
* Disease stage estimation by the clinician.
* Demographics and disease-related information (i.e. age, sex, race, age at disease onset, disease duration)
* Review of your medical records
All Participants
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.
Spinocerebellar Ataxia 6
If you decide to participate in this study, the following study procedures will be performed:
* blood collection for DNA testing, analysis (genetic modifier study) and banking
* Medical history
* Physical exam
* Scale for Assessment and Rating of Ataxia (SARA)
* Timed measure of your hand dexterity and walking (25 ft)
* Questionnaire about your daily living activities, your physical and mental quality of life and assessment of depression.
* Disease stage estimation by the clinician.
* Demographics and disease-related information (i.e. age, sex, race, age at disease onset, disease duration)
* Review of your medical records
All Participants
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.
Interventions
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All Participants
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.
Eligibility Criteria
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Inclusion Criteria
* 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
* Exclusion of SCA 1, 2, 3 and 6 by previous DNA testing,
* A lack of willingness to participate in the study
6 Years
ALL
No
Sponsors
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National Ataxia Foundation
OTHER
University of California, Los Angeles
OTHER
University of Florida
OTHER
Responsible Party
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Principal Investigators
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S. Subramony, MD
Role: PRINCIPAL_INVESTIGATOR
University of Florida
Locations
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University of California Los Angeles
Los Angeles, California, United States
University of California San Francisco
San Francisco, California, United States
University of Florida
Gainesville, Florida, United States
University of South Florida
Tampa, Florida, United States
Emory University
Atlanta, Georgia, United States
University of Chicago
Chicago, Illinois, United States
John Hopkins University
Baltimore, Maryland, United States
Harvard University
Boston, Massachusetts, United States
University of Michigan
Ann Arbor, Michigan, United States
University of Minnesota
Minneapolis, Minnesota, United States
Columbia University
New York, New York, United States
University of Utah
Salt Lake City, Utah, United States
Countries
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Facility Contacts
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Related Links
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National Ataxia Foundation
Other Identifiers
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505-2009
Identifier Type: OTHER
Identifier Source: secondary_id
OCR16458
Identifier Type: OTHER
Identifier Source: secondary_id
IRB201700740
Identifier Type: -
Identifier Source: org_study_id
NCT01223417
Identifier Type: -
Identifier Source: nct_alias
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