Actively Recruiting
RFC1 Natural History Study
Led by Prof. Dr. Matthis Synofzik · Updated on 2026-03-31
150
Participants Needed
10
Research Sites
259 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
RFC1 Natural History Study
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Genetic diagnosis of bi-allelic pathogenic repeat expansions in RFC1
- Healthy controls must have no signs or history of neurological or psychiatric disease
- Written informed consent is required
- Participants must be willing and able to comply with study procedures
You will not qualify if you...
- Missing informed consent for RFC1 participants
- Controls with evidence of neuropathy, neurodegenerative disease, or movement disorder
- Inability to provide informed consent
AI-Screening
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Trial Site Locations
Total: 10 locations
1
Department of Neuroscience, Central Clinical School, Monash University
Melbourne, Victoria, Australia, 3004
Actively Recruiting
2
Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo
São Paulo, State of São Paulo, Brazil, 04040-003
Actively Recruiting
3
Service de Neurologie, Hôpitaux Universitaires de Strasbourg
Strasbourg, Strasbourg, France, 67000
Actively Recruiting
4
Center for Neurology & Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases
Tübingen, Baden-Wurttemberg, Germany, 72076
Actively Recruiting
5
German Center for Neurodegenerative Diseases (DZNE)
Bonn, North Rhine-Westphalia, Germany, 53127
Actively Recruiting
6
Department of Neurology University Hospital Schleswig Holstein
Lübeck, Schleswig-Holstein, Germany, 23562
Actively Recruiting
7
Università degli Studi di Napoli 'Federico II', c/o AOU Federico II
Naples, Napoli, Italy, 80131
Actively Recruiting
8
IRCCS Fondazione Stella Maris
Pisa, Italy, 56128
Actively Recruiting
9
Centre of Brain Research Neurogenetics Research Clinic, University of Auckland
Auckland, New Zealand, 1142
Actively Recruiting
10
Koç University Hospital, KUTTAM-NDAL
Istanbul, Turkey (Türkiye), 34010
Actively Recruiting
Research Team
M
Matthis Synofzik, Prof. Dr.
CONTACT
A
Andreas Traschütz, Dr. Dr.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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