Natural History Study of Spinocerebellar Ataxias
Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias
Recruiting
Observational Study
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
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
Healthy Volunteers Welcome
You do not need to have the condition being studied to take part.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 6 and older
- Sex
- Any
- Study type
- Observational
- Participants needed
- 1,400 (estimated)
- Sponsor
- Lauren Moore · Other
Who this trial is looking for
This trial is looking for individuals with specific types of spinocerebellar ataxia. Participants will provide information through visits every year, which will include exams, surveys, blood draws, and MRI scans.
Are You a Good Fit for This Trial?
You may be able to join if
- I am at least 6 years old and have symptoms of ataxia with a genetic confirmation of SCA.
- I am at least 18 years old with a definite genetic diagnosis of SCA.
- I was a former participant in the READISCA study.
- I am willing to participate in the study and can give informed consent.
- For the MRI Sub-Study only: I am at least 18 years old with confirmed SCA1, 2, or 3 and a low SARA score.
- For the MRI Sub-Study only: I am a healthy control participant with no neurological condition.
You may not be able to join if
- I have been excluded from having SCA by previous DNA testing.
- I am not willing to participate in the study.
- For the MRI Sub-Study only: I cannot undergo MRI scanning.
- I am pregnant.
- I have other neurological diseases not related to the study.
Summarized in plain language from this trial's official eligibility criteria. The full criteria are further down this page — only the research team can confirm whether you qualify.
Think this trial could be right for you?
Answer a few quick questions to see if you may meet the eligibility requirements.
Check Your Eligibility
About This Trial
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…
Trial Locations
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Eligibility Criteria
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…
Contacts