RFC1 Natural History Study

Condition(s) studied

Investigational drug(s) / intervention(s)

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.

Study 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

Primary outcome measure(s)

• Change of Scale for the Assessment and Rating of Ataxia (SARA) from baseline to 2-year follow-up. — 24 months
  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.

Trial sites (10)

Other trials for the same condition