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

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.

NCT Number	NCT07156214
Lead Sponsor	Catholic University of the Sacred Heart
Conditions	CANVAS Syndrome
Enrollment	50 participants
Start Date	2024-10-14
Primary Completion	2026-06-30 (estimated)
Study Completion	2026-07-31 (estimated)
Updated on ClinicalTrials.gov	2025-09-05