Observing the natural progression of RFC1 repeat expansion disease
RFC1 Natural History Study
This study is trying to understand how RFC1 repeat expansion disease affects people over time and to find helpful markers for diagnosis and future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 150 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | University Hospital Tuebingen Academic / other |
| Locations | 10 sites (Melbourne, Victoria and 9 other locations) |
| Trial ID | NCT05177809 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include individuals with a genetic diagnosis of bi-allelic pathogenic repeat expansions in RFC1.
Not a fit: Patients with evidence of neuropathy, neurodegenerative disease, or movement disorders, as well as those unable to provide informed consent, may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnostic tools and outcome measures for patients with RFC1 repeat expansion disease.
How similar studies have performed: While this study employs a novel approach to understanding RFC1 repeat expansion disease, similar observational studies have shown success in characterizing other genetic ataxias.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Melbourne, Victoria and 9 other locations
- 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)
- Università degli Studi di Napoli 'Federico II', c/o AOU Federico II — Naples, Napoli, Italy (Recruiting)
- IRCCS Fondazione Stella Maris — Pisa, Italy (Recruiting)
- Centre of Brain Research Neurogenetics Research Clinic, University of Auckland — Auckland, New Zealand (Recruiting)
- Koç University Hospital, KUTTAM-NDAL — Istanbul, Turkey (Türkiye) (Recruiting)
Study contacts
- Principal investigator: Matthis Synofzik, Prof. Dr. — University Hospital Tübingen
- Study coordinator: Matthis Synofzik, Prof. Dr.
- Email: matthis.synofzik@uni-tuebingen.de
- Phone: +49 7071 29
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.