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Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias

Recruitingn/aAges 6 Years - anyAllLauren Moore
NCT01060371 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

Spinocerebellar ataxias (SCA) are genetic neurological diseases that cause imbalance, poor coordination, and speech difficulties. There are different kinds of SCAs and this study will focus on types 1, 2, 3, 6, 7, 8, 10, 27B, and RFC1-ataxia (SCA 1, SCA 2, SCA 3, also known as Machado-Joseph disease, SCA 6, SCA 7, SCA 8, SCA 10, SCA27B, and RFC1-ataxia, also known as CANVAS). 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 do these diseases 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 these diseases, have any effect on the way th

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📋 Eligibility rules (as published)
Inclusion Criteria: * Affected individuals aged 6 or above with symptoms and/or signs of ataxia with genetic confirmation of SCA 1, 2, 3, 6, 7, 8, 10, 27B, or RFC1-ataxia either in themselves or first degree family member. * Any individual aged 18 or above with a definite molecular diagnosis of SCA 1, 2, 3, 6, 7, 8, 10, 27B, or RFC1-ataxia. * Former participants of the READISCA (NCT03487367) study. * Willingness to participate in the study and ability to give informed consent * For MRI Sub-Study only: Previous READISCA enrollees; individuals aged 18 or above with a genetic confirmation of SCA1, 2, or 3 and a SARA score \<10 at MRI pre-screening; Healthy control participants without neurological condition. Exclusion Criteria: * Exclusion of SCA 1, 2, 3, 6, 7, 8, 10, 27B, or RFC1-ataxia by previous DNA testing. * A lack of willingness to participate in the study * For MRI Sub-study only: Inability to undergo MRI scanning, pregnancy, and other neurological diseases than those of interest.
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What it tests

  • Genetic Testing
  • Blood Collection
  • Magnetic Resonance Imaging (MRI) Scan
  • Assessments and Questionnaires
  • Cerebrospinal Fluid Collection
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Where

17 sites
University of California Los Angeles
Los Angeles, United States
University of California San Francisco
San Francisco, United States
University of Florida
Gainesville, United States
University of South Florida
Tampa, United States
Emory University
Atlanta, United States
Nortwestern University
Chicago, United States
University of Chicago
Chicago, United States
John Hopkins University
Baltimore, United States

…and 9 more on ClinicalTrials.gov.

🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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