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RFC1 Natural History Study

NCT05177809 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 150

Last updated 2026-03-31

No results posted yet for this 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.

Conditions

  • Ataxia

Interventions

OTHER

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.

Sponsors & Collaborators

  • Prof. Dr. Matthis Synofzik

    lead OTHER

Principal Investigators

  • Matthis Synofzik, Prof. Dr. · University Hospital Tübingen

  • Andreas Traschütz, Dr. Dr. · University Hospital Tübingen

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2021-12-14
Primary Completion
2026-12-31
Completion
2026-12-31

Countries

  • Australia
  • Brazil
  • France
  • Germany
  • Italy
  • New Zealand
  • Turkey (Türkiye)

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05177809 on ClinicalTrials.gov