Clinical Research Directory
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RFC1 Natural History Study
Sponsor: Prof. Dr. Matthis Synofzik
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.
Key Details
Gender
All
Age Range
18 Years - Any
Study Type
OBSERVATIONAL
Enrollment
150
Start Date
2021-12-14
Completion Date
2026-12
Last Updated
2026-03-31
Healthy Volunteers
Yes
Conditions
Interventions
Clinical rating scale to measure ataxia disease severity and progression
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.
Locations (10)
Department of Neuroscience, Central Clinical School, Monash University
Melbourne, Victoria, Australia
Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo
São Paulo, State of São Paulo, Brazil
Service de Neurologie, Hôpitaux Universitaires de Strasbourg
Strasbourg, Strasbourg, France
Center for Neurology & Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases
Tübingen, Baden-Wurttemberg, Germany
German Center for Neurodegenerative Diseases (DZNE)
Bonn, North Rhine-Westphalia, Germany
Department of Neurology University Hospital Schleswig Holstein
Lübeck, Schleswig-Holstein, Germany
Università degli Studi di Napoli 'Federico II', c/o AOU Federico II
Naples, Napoli, Italy
IRCCS Fondazione Stella Maris
Pisa, Italy
Centre of Brain Research Neurogenetics Research Clinic, University of Auckland
Auckland, New Zealand
Koç University Hospital, KUTTAM-NDAL
Istanbul, Turkey (Türkiye)