The Medication Patterns of Spinocerebellar Ataxia Type 3 Mutation Carriers Enrolled in the ESMI Cohort

BackgroundSpinocerebellar ataxia type 3 (SCA3) is one of the most common dominantly inherited ataxia worldwide. Despite research advances, no approved disease-modifying treatment exists, and management focuses on symptom alleviation and functional capacity maximization. Symptomatic treatment guidelines are scarce, leaving decisions to physicians discretion. The lack of studies on SCA3 symptom management hinders therapy standardization. This study investigated medication usage patterns among SCA3 mutation carriers and controls recruited by the multicentric European Spinocerebellar Ataxia Type-3/Machado-Joseph Disease Initiative (ESMI). MethodsWe collected medication data from ESMI cohort participants (n=474), comparing SCA3 mutation carriers (n=344) at different disease stages with controls (n=130). We analysed medication usage based on age and ataxia severity groups as well as research centre locations using the ATC code system for classification. ResultsThere were significant differences in medication usage between mutation carriers and controls. SCA3 subjects took more vitamins, mineral supplements, and muscle relaxants, and medications targeting the nervous system. Psychoanaleptics and vitamins were introduced earlier in the disease course, with 29.2% and 25.0% of mildly ataxic individuals using such subclasses medications, respectively. Most medications, however, were only initiated during the mid-to-late stages of the disease, coinciding with the onset of most neurological symptoms. There were substantial disparities in medication usage across study centres. No significant impact on disease progression was observed for the medication subclasses more frequently used by SCA3 patients. ConclusionsThis is the first study to explore medication usage patterns in SCA3 mutation carriers. Our study provides a comprehensive overview of the medications administered in SCA3 and underscore the importance of collaborative efforts toward achieving standardized clinical practices in the management of this disease.