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Studies

Observational Recruiting

NCT05177809 on ClinicalTrials.gov

RFC1 Natural History Study

  • Sponsor: Prof. Dr. Matthis Synofzik
  • Enrollment: 150 (Estimated)
  • Study start: 2021-12-14 (Actual)
  • Primary completion: 2026-12-01 (Estimated)
  • Study completion: 2026-12-01 (Estimated)
  • Allocation: N/a
  • InterventionModel: N/a
  • Masking: None
  • PrimaryPurpose: Other

Brief 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

Intervention / Treatment

  • Other: Clinical rating scale to measure ataxia disease severity and progression

Primary Outcome Measures

  • 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.

Countries

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

Locations and Investigators

  • Department of Neuroscience, Central Clinical School, Monash University, Melbourne, Australia (Recruiting)
    • Ian Harding, PhD
    • Adam Vogel, PhD
    • Ian Harding, PhD (Principal Investigator)
    • Adam Vogel, PhD (Principal Investigator)
    • David Szmulewicz, MD, PhD (Principal Investigator)
  • Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, São Paulo, Brazil (Recruiting)
    • José Luiz Pedroso, MD
    • Paula Camila Alves, MD
    • José Luiz Pedroso, MD (Principal Investigator)
    • Orlando Graziani Povoas Barsottini, MD (Principal Investigator)
  • Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France (Recruiting)
    • Thomas Wirth, Dr.
    • Mathieu Anheim, Prof. (Principal Investigator)
    • Thomas Wirth, Dr.
  • Center for Neurology & Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases, Tübingen, Germany (Recruiting)
    • Lisa Graf, MSc
    • Doreen Müller
    • Matthis Synofzik, Prof. Dr. (Principal Investigator)
    • Andreas Traschütz, Dr. Dr. (Principal Investigator)
  • German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany (Recruiting)
  • Department of Neurology University Hospital Schleswig Holstein, Lübeck, Germany (Recruiting)
    • Madita Grümmer
    • Norbert Brüggemann, Prof. Dr. (Principal Investigator)
    • Max Borsche, Dr.
  • Università degli Studi di Napoli 'Federico II', c/o AOU Federico II, Naples, Italy (Recruiting)
    • Francesco Saccà, Prof.
    • Francesco Saccà, Prof. (Principal Investigator)
    • Chiara Pane, Dr.
  • IRCCS Fondazione Stella Maris, Pisa, Italy (Recruiting)
    • Filippo M. Santorelli, MD
    • Ivana Ricca, MD
    • Filippo M. Santorelli, MD (Principal Investigator)
  • Centre of Brain Research Neurogenetics Research Clinic, University of Auckland, Auckland, New Zealand (Recruiting)
    • Ashleigh O'Mara Baker
    • Richard Roxburgh, Prof. (Principal Investigator)
  • Koç University Hospital, KUTTAM-NDAL, Istanbul, Turkey (Türkiye) (Recruiting)
    • Nazli BAŞAK, PhD
    • Atay Vural, MD, PhD
    • Nazli BAŞAK, PhD (Principal Investigator)
    • Atay Vural, MD, PhD (Principal Investigator)

Study Officials