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

NCT07156214 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 50

Last updated 2025-09-05

No results posted yet for this study

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 expansion of an AAGGG pentanucleotide repeat in intron 2 of the Replication Factor C subunit 1 (RFC1) gene.

This adult-onset condition presents with a variable combination of cerebellar ataxia, peripheral neuropathy, and vestibular dysfunction. Currently, limited data are available regarding its natural history and the molecular mechanisms by which this dynamic mutation leads to neurodegeneration of selective neuronal populations.

Given that recent literature identifies RFC1/CANVAS as a relatively common genetic cause of late-onset ataxia, elucidation of its underlying pathogenic mechanisms may offer insights into the molecular pathways implicated in more prevalent late-onset neurodegenerative diseases, such as Parkinson's disease and Alzheimer's disease.

Conditions

  • CANVAS Syndrome

Interventions

OTHER

Assessment of markers of oxidative stress in peripheral blood samples

Participants will perform serial blood samples at interval of 12 months to compare levels of markers of oxidative stress

Sponsors & Collaborators

  • Catholic University of the Sacred Heart

    lead OTHER

Principal Investigators

  • Gabriella Silvestri · Catholic University of the Sacred Heart

Study Design

Allocation
NON_RANDOMIZED
Purpose
BASIC_SCIENCE
Masking
NONE
Model
PARALLEL

Eligibility

Min Age
18 Years
Max Age
80 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2024-10-14
Primary Completion
2026-06-30
Completion
2026-07-31

Countries

  • Italy

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 NCT07156214 on ClinicalTrials.gov