Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias

Recruiting now

Conditions studied: Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 3, Spinocerebellar Ataxia Type 6, Spinocerebellar Ataxia Type 7, Spinocerebellar Ataxia Type 8, Spinocerebellar Ataxia Type 10, RFC1 Gene Mutation, Spinocerebellar Ataxia Type 27b, Healthy Participants

In brief

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 the disease behaves? This is a nationwide study and the investigators expect that 1400 patients will participate all over North America. The participants will remain in the study for an indeterminate period of time, for as long as they are willing to participate. Study visits will be done every 12 months. Within the broader CRC-SCA, there is an Imaging Sub-study aiming to identify magnetic resonance imaging (MRI) markers sensitive to the onset and progression of common SCAs. To accomplish this, participants attend annual visits involving a neurological exam, surveys, a blood draw, and an MRI scan. Participants can attend visits at one of three US locations - Minneapolis, MN; Gainesville, FL; or Dallas, TX and two European locations - Paris, France and Bonn, Germany. Eligible participants must either have SCA1, 2, or 3 or have been a participant of the previous READISCA study (NCT03487367). Gene-positive participants must have a SARA score less than 10; however, there is no SARA limit for participants previously enrolled in READISCA. All participants must be 18 years or older. Gene-negative participants should be 25-65 years old.

Key facts

Study ID: NCT01060371
Run by: Lauren Moore
People needed: 1400
Starts: 2010-04-01
Expected to finish: 2030-12-01
Last updated by the study team: 2026-08-03

Who can join

Age: 6 and older. Sex: any. Healthy volunteers: accepted.

You may qualify if…

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.

You may not qualify if…

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 is running

Le Centre hospitalier de l'Université de Montréal — Montreal, Quebec, Canada (enrolling)
University of California San Francisco — San Francisco, California, United States (enrolling)
University of Florida — Gainesville, Florida, United States (enrolling)
University of South Florida — Tampa, Florida, United States (enrolling)
Emory University — Atlanta, Georgia, United States (enrolling)
Nortwestern University — Chicago, Illinois, United States (enrolling)
University of Washington — Seattle, Washington, United States (enrolling)
University of California Los Angeles — Los Angeles, California, United States (enrolling)
John Hopkins University — Baltimore, Maryland, United States (enrolling)
Harvard University — Boston, Massachusetts, United States (enrolling)
University of Michigan — Ann Arbor, Michigan, United States (enrolling)
Columbia University — New York, New York, United States (enrolling)
University of Pennsylvania — Philadelphia, Pennsylvania, United States (enrolling)
University of Texas Southwestern Medical Center — Dallas, Texas, United States (enrolling)
Houston Methodist — Houston, Texas, United States (enrolling)
University of Chicago — Chicago, Illinois, United States
University of Minnesota — Minneapolis, Minnesota, United States

Full record on ClinicalTrials.gov

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