Study of RFC1 gene changes in patients and healthy controls
Part of Brain & nervous system clinical trials.
This study tracks people with a specific genetic cause of RFC1-related disease, and compares them with healthy people without nervous system or mental health conditions. It helps researchers learn how the condition develops over time and what changes to watch for.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You have a confirmed genetic diagnosis of RFC1 repeat expansion in both copies of the gene (a specific inherited change).
- If you are a healthy control: you have no signs or history of nervous system (neurological) or mental health (psychiatric) disease.
- You must be able to read and sign a consent form (written informed consent).
- You must be willing and able to follow all study visits and procedures.
- Controls must not have nerve damage symptoms (neuropathy), brain/worsening nerve diseases (neurodegenerative disease), or movement disorders (like tremor or stiffness).
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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