Status:

RECRUITING

Pathogenic Insights and Search for Biomarkers in RFC1-ataxia/CANVAS

Lead Sponsor:

Catholic University of the Sacred Heart

Conditions:

CANVAS Syndrome

Eligibility:

All Genders

18-80 years

Phase:

NA

Brief Summary

CANVAS (Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome), also referred to as RFC1-ataxia, is a recently molecularly characterized neurodegenerative disorder caused by a biallelic expansi...

Detailed Description

The research proposal recognizes as the primary aim to evaluate and compare the sensitivity of individual validated clinical rating scales in assessing global disease severity and/or progression in a ...

Eligibility Criteria

Inclusion

  • Molecular diagnosis of RFC1-ataxia
  • age \>18 years and \<80 years
  • ability to sign informed consent

Exclusion

  • Diagnosis of other degenerative and/or non-degenerative neurological diseases
  • Not signed informed consent

Key Trial Info

Start Date :

October 14 2024

Trial Type :

INTERVENTIONAL

Allocation :

ESTIMATED

End Date :

July 31 2026

Estimated Enrollment :

50 Patients enrolled

Trial Details

Trial ID

NCT07156214

Start Date

October 14 2024

End Date

July 31 2026

Last Update

September 5 2025

Active Locations (2)

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Page 1 of 1 (2 locations)

1

Alma Mater Studiorum University of Bologna

Bologna, Italy, 40126

2

Department of Neuroscience

Roma, Italy, 00168