RFC1 Natural History Study

Launched by PROF. DR. MATTHIS SYNOFZIK · Dec 14, 2021

Keywords

ClinConnect Summary

The RFC1 Natural History Study is an international research project that aims to better understand a specific type of ataxia, which is a condition that affects coordination and balance. This study will look at how the condition develops over time and identify potential tools, like digital tests and imaging scans, that could help doctors diagnose it and measure how well treatments work in the future. The study is currently recruiting participants, and it welcomes individuals aged 65 and older who have a confirmed genetic diagnosis related to RFC1 repeat expansions. Additionally, healthy volunteers without any neurological or psychiatric conditions can join as control participants.

If you choose to participate, you can expect to undergo various assessments and tests that will help researchers gather important information about the disease. It's essential that participants are able to provide informed consent, meaning they agree to join the study after understanding what it involves. This study is crucial for advancing knowledge about ataxia and could pave the way for better diagnoses and treatments in the future.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • RFC1: genetic diagnosis of bi-allelic pathogenic repeat expansions in RFC1
• • Unrelated healthy controls: no signs or history of neurological or psychiatric disease AND
• • Written informed consent AND
• • Participants are willing and able to comply with study procedures
• Exclusion Criteria:
• • RFC1: Missing informed consent
• • Controls: evidence of neuropathy, neurodegenerative disease, or movement disorder; inability to give informed consent