DUGi

Implementation of a standardized phenotyping-based diagnostic protocol in hereditary ataxias: a multicentric parallel cluster randomized trial

http://dugi.udg.edu/item/http:@@@@hdl.handle.net@@10256@@28670

Background: Hereditary ataxias comprise a heterogeneous group of rare neurodegenerative disorders characterized by progressive loss of coordination and extensive clinical and genetic variability. The current diagnostic process is often prolonged and observer-dependent, with an average delay of several years and only half of patients achieving a confirmed genetic diagnosis. Objective: This study aims to design and evaluate a standardized phenotyping-based diagnostic protocol to increase the proportion of genetically confirmed cases within the first year of clinical assessment, as well as to extend current knowledge on the clinical and phenotypic spectrum of hereditary ataxias and its correlation with genotype. Methods: A multicentre parallel cluster randomized trial (CRT) will be conducted across six hospitals in Catalonia. Hospitals will be randomized to either the implementation of a new diagnostic protocol, which integrates structured neurological, oculomotor, neurophysiological, and neuroimaging assessment, or to continue routine diagnostic practice. The primary outcome will be the proportion of confirmed molecular diagnosis within the first 12 months of clinical evaluation. Expected impact: By providing a structured approach to the diagnostic process, this protocol is expected to shorten diagnostic delays, therefore facilitating access to therapeutic and supportive strategies, from potential treatments and genetic counseling to reproductive planning and social support, overall improving quality of care for individuals with hereditary ataxia

3