RFC1 Natural History Study
RFC1-NHS
1 other identifier
observational
150
7 countries
10
Brief Summary
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P50-P75 for all trials
Started Dec 2021
Longer than P75 for all trials
10 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
December 14, 2021
CompletedStudy Start
First participant enrolled
December 14, 2021
CompletedFirst Posted
Study publicly available on registry
January 5, 2022
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 1, 2026
ExpectedStudy Completion
Last participant's last visit for all outcomes
December 1, 2026
March 31, 2026
March 1, 2026
5 years
December 14, 2021
March 30, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Change of Scale for the Assessment and Rating of Ataxia (SARA) from baseline to 2-year follow-up.
Severity of ataxia in the RFC1 cohort will be assessed by application of the Scale for the Assessment and Rating of Ataxia (SARA). The total score is calculated as the sum of 8 items, yielding a total score between 0 and 40. Hereby, higher SARA scores indicate more severe disease.
24 months
Secondary Outcomes (3)
Friedreich Ataxia Rating Scale - Activities of Daily Living (FARS-ADL) from baseline to 2-year follow-up.
24 months
Charcot-Marie-Tooth Examination Score Version 2 (CMTESv2) from baseline to 2-year follow-up.
24 months
Nine-Hole Peg Test (9HPT) from baseline to 2-year follow-up.
24 months
Other Outcomes (9)
Composite Autonomic Symptom Score (COMPASS-31) at baseline, and eventually from baseline to 2-year follow-up if baseline data supports further use.
24 months
Cerebellar cognitive-affective syndrome scale (CCAS) from baseline to 2-year follow-up.
24 months
Clinical Assessment of Dysphagia in Neurodegeneration (CADN) from baseline to 2-year follow-up.
24 months
- +6 more other outcomes
Study Arms (2)
RFC1
Participants with genetically confirmed RFC1 repeat expansion disease (ORPHA: 504476; OMIM 102579) will be recruited. Target sample size for the RFC1 cohort is 100 participants.
Unrelated healthy controls
Unrelated healthy controls Healthy controls may undergo the same study procedures as the RFC1 cohort. Target sample size for the control cohort is 50.
Interventions
SARA is a clinical scale developed by Schmitz-Hübsch et al which assesses a range of different impairments in cerebellar ataxia. The scale is made up of 8 items related to gait, stance, sitting, speech, finger-chase test, nose-finger test, fast alternating movements and heel-shin test.
Eligibility Criteria
This study enrolls probands with clinically manifest and genetically confirmed RFC1 repeat expansion disease, as well as healthy unrelated controls to contrast unspecific, age- or sex-related findings to disease-related specific findings.
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
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (10)
Department of Neuroscience, Central Clinical School, Monash University
Melbourne, Victoria, 3004, Australia
Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo
São Paulo, State of São Paulo, 04040-003, Brazil
Service de Neurologie, Hôpitaux Universitaires de Strasbourg
Strasbourg, Strasbourg, 67000, France
Center for Neurology & Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases
Tübingen, Baden-Wurttemberg, 72076, Germany
German Center for Neurodegenerative Diseases (DZNE)
Bonn, North Rhine-Westphalia, 53127, Germany
Department of Neurology University Hospital Schleswig Holstein
Lübeck, Schleswig-Holstein, 23562, Germany
Università degli Studi di Napoli 'Federico II', c/o AOU Federico II
Naples, Napoli, 80131, Italy
IRCCS Fondazione Stella Maris
Pisa, 56128, Italy
Centre of Brain Research Neurogenetics Research Clinic, University of Auckland
Auckland, 1142, New Zealand
Koç University Hospital, KUTTAM-NDAL
Istanbul, 34010, Turkey (Türkiye)
Related Links
Biospecimen
optional biosample collection including blood (DNA, serum, plasma, RNA, PBMC), urine, CSF, skin biopsy
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Matthis Synofzik, Prof. Dr.
University Hospital Tübingen
- PRINCIPAL INVESTIGATOR
Andreas Traschütz, Dr. Dr.
University Hospital Tübingen
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Target Duration
- 24 Months
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR INVESTIGATOR
- PI Title
- Principal Investigator, Leading Consultant
Study Record Dates
First Submitted
December 14, 2021
First Posted
January 5, 2022
Study Start
December 14, 2021
Primary Completion (Estimated)
December 1, 2026
Study Completion (Estimated)
December 1, 2026
Last Updated
March 31, 2026
Record last verified: 2026-03