Observing the natural progression of RFC1 repeat expansion disease

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This international, multi-center observational study aims to explore the phenotypic spectrum and natural progression of RFC1 repeat expansion disease, a form of ataxia that typically presents in late adulthood. Participants will undergo annual assessments that include standardized clinical examinations and optional biosample donations for biomarker analysis. The study will utilize a clinical database to track data and outcomes, while also potentially incorporating various additional examinations to capture the disease's multisystemic effects. The goal is to identify reliable biomarkers that can aid in diagnosis and serve as outcome measures for future clinical trials.

Why it matters

Who can join: the full rules

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

Where it's running

• Department of Neuroscience, Central Clinical School, Monash University
  Melbourne, Victoria, Australia Recruiting
• Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo
  São Paulo, State of São Paulo, Brazil Recruiting
• Service de Neurologie, Hôpitaux Universitaires de Strasbourg
  Strasbourg, Strasbourg, France Recruiting
• Center for Neurology & Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases
  Tübingen, Baden-Wurttemberg, Germany Recruiting
• German Center for Neurodegenerative Diseases (DZNE)
  Bonn, North Rhine-Westphalia, Germany Recruiting
• Department of Neurology University Hospital Schleswig Holstein
  Lübeck, Schleswig-Holstein, Germany Recruiting

Study contacts

• Principal investigator: Matthis Synofzik, Prof. Dr. — University Hospital Tuebingen
• Study coordinator: Matthis Synofzik, Prof. Dr.
• Email: matthis.synofzik@uni-tuebingen.de
• Phone: +49 7071 29

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.