Natural history and genetic modifiers in spinocerebellar ataxias

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This is a nationwide observational study that follows patients with SCA types 1, 2, 3, 6, 7 (and related forms) to understand disease progression and identify genetic modifiers. Participants provide blood samples for DNA analysis and return for annual visits, with optional cerebrospinal fluid collection. Samples may be stored in a biospecimen repository and shared with researchers, without personal identifiers. The study also uses MRI and various assessments to track symptoms and biomarkers over time.

Why it matters

Who can join: the full rules

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.

Where it's running

• University of California Los Angeles
  Los Angeles, California, United States Recruiting
• University of California San Francisco
  San Francisco, California, United States Recruiting
• University of Florida
  Gainesville, Florida, United States Recruiting
• University of South Florida
  Tampa, Florida, United States Recruiting
• Emory University
  Atlanta, Georgia, United States Recruiting
• Nortwestern University
  Chicago, Illinois, United States Recruiting

Study contacts

• Principal investigator: Liana Rosenthal, MD, PhD — Johns Hopkins University
• Study coordinator: Laura P Crespo
• Email: laura@ataxia.org
• Phone: 763-553-0085

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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• Interposed Nucleus aDBS for Ataxia in SCA6

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• Observing the progression of Spinocerebellar Ataxia Type 27B

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.