RecruitingNCT05177809

RFC1 Natural History Study

Sponsor

Prof. Dr. Matthis Synofzik

Enrollment

150 participants

Start Date

Dec 14, 2021

Study Type

OBSERVATIONAL

Conditions

Ataxia

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.

Eligibility

Min Age: 18 Years

Plain Language Summary

Simplified for easier understanding

This clinical trial is studying Clinical rating scale to measure ataxia disease severity and progression for people with ataxia. The study is currently recruiting participants at 10 locations. People eligible for this study include aged 18 Years and older.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Interventions

OTHERClinical 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)

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NCT05177809

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