RFC1 Natural History Study
ConditionAtaxia
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorProf. Dr. Matthis Synofzik
About this trial
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.
Eligibility criteria
Qualifiers
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
Disqualifiers
RFC1: Missing informed consent
Controls: evidence of neuropathy, neurodegenerative disease, or movement disorder; inability to give informed consent
Trial design
Treatments tested in this trial
- Clinical rating scale to measure ataxia disease severity and progression
Treatment groups
150 Participants
are divided into 2 treatment groupsSponsors and collaborators
Prof. Dr. Matthis Synofzik
Lead sponsor
University Hospital Tuebingen
Sponsor institution
Source ClinicalTrials.gov