RFC1 Natural History Study
Recruiting now
Conditions studied: Ataxia
In brief
This 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.
Key facts
- Study ID
- NCT05177809
- Run by
- Prof. Dr. Matthis Synofzik
- People needed
- 150
- Starts
- 2021-12-14
- Expected to finish
- 2026-12-01
- Last updated by the study team
- 2026-03-31
Who can join
Age: 18 and older. Sex: any. Healthy volunteers: accepted.
You may qualify if…
- 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
You may not qualify if…
- RFC1: Missing informed consent
- Controls: evidence of neuropathy, neurodegenerative disease, or movement disorder; inability to give informed consent
Where it is running
- Department of Neuroscience, Central Clinical School, Monash University — Melbourne, Victoria, Australia (enrolling)
- Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo — São Paulo, State of São Paulo, Brazil (enrolling)
- Service de Neurologie, Hôpitaux Universitaires de Strasbourg — Strasbourg, Strasbourg, France (enrolling)
- Center for Neurology & Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases — Tübingen, Baden-Wurttemberg, Germany (enrolling)
- German Center for Neurodegenerative Diseases (DZNE) — Bonn, North Rhine-Westphalia, Germany (enrolling)
- Department of Neurology University Hospital Schleswig Holstein — Lübeck, Schleswig-Holstein, Germany (enrolling)
- Università degli Studi di Napoli 'Federico II', c/o AOU Federico II — Naples, Napoli, Italy (enrolling)
- IRCCS Fondazione Stella Maris — Pisa, Italy (enrolling)
- Centre of Brain Research Neurogenetics Research Clinic, University of Auckland — Auckland, New Zealand (enrolling)
- Koç University Hospital, KUTTAM-NDAL — Istanbul, Turkey (Türkiye) (enrolling)
Full record on ClinicalTrials.gov
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