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

Inclusion Criteria4

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 Criteria2

RFC1: Missing informed consent
Controls: evidence of neuropathy, neurodegenerative disease, or movement disorder; inability to give informed consent

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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.