U.S., Sept. 6 -- ClinicalTrials.gov registry received information related to the study (NCT07156214) titled 'Pathogenic Insights and Search for Biomarkers in RFC1-ataxia/CANVAS' on July 29.
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 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...