RFC1 Natural History Study for Ataxia
RFC1 Natural History Study
- Age
- 18 and older
- Sex
- Any
- Study type
- Observational
- Participants needed
- 150 (estimated)
- Sponsor
- Prof. Dr. Matthis Synofzik · Other
This trial is looking for individuals with a specific genetic condition related to ataxia, as well as healthy people without neurological issues. Participants will help us understand the disease better by providing data and biological samples.
You may be able to join if
- I have a genetic diagnosis of bi-allelic pathogenic repeat expansions in RFC1.
- I am a healthy control without signs of neurological or psychiatric disease.
- I can give written informed consent.
- I am willing and able to follow study procedures.
You may not be able to join if
- I have not provided informed consent.
- I have signs of neuropathy or neurodegenerative disease.
- I have a movement disorder.
- I am unable to give informed consent.
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 EligibilityThis international, multi-center, multi-modal and prospective observational study aims to determine the phenotypic spectrum and the natural progression of the RFC1 repeat expansion disease, and to seek and validate digital, imaging, and molecular biomarkers that aid in diagnosis and serve as outcome measures in future clinical trials of this novel, but frequent ataxia with late adult-onset.
Loading trial locations…