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

Recruiting now · Not applicable

Conditions studied: CANVAS Syndrome

In brief

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.

Key facts

Study ID

NCT07156214

Run by

Catholic University of the Sacred Heart

People needed

50

Starts

2024-10-14

Expected to finish

2026-07-31

Last updated by the study team

2025-09-05

Who can join

Age: 18 and older, up to 80. Sex: any. Healthy volunteers: accepted.

You may qualify if…

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

You may not qualify if…

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

Where it is running

• Department of Neuroscience — Roma, Italy (enrolling)
• Alma Mater Studiorum University of Bologna — Bologna, Italy

Full record on ClinicalTrials.gov

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