The Medication Patterns of Spinocerebellar Ataxia Type 3 Mutation Carriers Enrolled in the ESMI Cohort
Year: 2025
Type: article
Abstract: BACKGROUND AND OBJECTIVES: Spinocerebellar ataxia type 3 (SCA3) is one of the most common dominantly inherited ataxias 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. The aim of this study was to investigate medication-usage patterns among SCA3 mutation carriers and controls included in the multicentric European Spinocerebellar Ataxia Type-3/Machado-Joseph Disease Initiative (ESMI) cohort. METHODS: We conducted a retrospective cross-sectional analysis of the medication taken by ESMI participants enrolled in the study between 2016 and 2023. Medication being used at the most recent follow-up visit available was categorized according to the Anatomical Therapeutic Chemical system. Comparisons between groups were performed using nonparametric tests for continuous variables and Fisher's exact test for categorical variables. In addition, a retrospective longitudinal analysis was conducted to study the impact of medication subclasses on disease progression, using linear mixed-effects models adjusted for relevant covariates. RESULTS: A total of 474 participants were included, comprising 344 SCA3 mutation carriers and 130 controls. Compared with controls, SCA3 subjects took more vitamins, mineral supplements, muscle relaxants, and medications targeting the nervous system. Psychoanaleptics and vitamins were introduced early in the disease course, whereas most other subclasses were initiated in mid-to-late stages, coinciding with the onset of neurological symptoms. Substantial disparities in medication usage were observed across the study centers. None of the medication subclasses commonly used by patients with SCA3 showed a significant impact on disease progression. CONCLUSIONS: This 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 underscores the importance of collaborative efforts toward achieving standardized clinical practices in the management of this disease.
Source: CNS Drugs
Authors: Patrick Silva, Marina A. Costa, Laetitia Gaspar, João Durães, Inês Cunha, Joana A Ribeiro, Cristina Januário, Bárbara Oliveiros, Jeannette Hübener-Schmid, Jennifer Faber, Mafalda Raposo, Manuela Lima, Hector Garcia-Moreno, Paola Giunti, Lukas Beichert, Ludger Schöls, Bart P. van de Warrenburg, Jeroen de Vries, Andreas Thieme, Kathrin Reetz, Heike Jacobi, Jon Infante, Thomas Klockgether, ESMI Study Group, Ana Ferreira, Ana Rosa, Carlos Gonzalez, Cristina Gonzalez-Robles, Dagmar Timmann, Friedrich Erdlenbruch, João Lemos, João Vasconcelos, Luís Teves, Paula Pires, Pedro Lopes, Pedro Coelho, Teresa Kay, Luís Pereira de Almeida, Magda M. Santana
Institutions: Centro de Neurociências e Biologia Celular, Centro de Inovação em Biomedicina e Biotecnologia, University of Coimbra, Unidade Local de Saúde de Coimbra, University of Tübingen, University Hospital Bonn, German Center for Neurodegenerative Diseases, Universidade dos Açores, Universidade do Porto, i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Instituto de Ciências Biomédicas Albel Salazar, UCL Queen Square Institute of Neurology, University College London, Hertie Institute for Clinical Brain Research, Radboud University Medical Center, University Medical Center Groningen, Essen University Hospital, Universitätsklinikum Aachen, RWTH Aachen University, University Hospital Heidelberg, Universidad de Cantabria, Biomedical Research Networking Center on Neurodegenerative Diseases, Marqués de Valdecilla University Hospital, Instituto de Investigación Marqués de Valdecilla
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $5,090
Funders: Friedreich's Ataxia Research Alliance, National Ataxia Foundation, Eli Lilly and Company, Biogen, Fundo Regional para a Ciência e Tecnologia, EU Joint Programme – Neurodegenerative Disease Research, European Federation of Pharmaceutical Industries and Associations, Universidade dos Açores, National Institute for Health and Care Research, University College London, European Commission, Deutsche Forschungsgemeinschaft, ZonMw, Eberhard Karls Universität Tübingen, Bundesministerium für Bildung und Forschung, Else Kröner-Fresenius-Stiftung, Eisai, Universidade do Porto, RWTH Aachen University, Hersenstichting, University College London Hospitals NHS Foundation Trust, Servier, Programa Operacional Regional do Centro, HORIZON EUROPE Framework Programme, Medical Research Council, Fundação para a Ciência e a Tecnologia, European Regional Development Fund, Medizinische Fakultät, RWTH Aachen University
Awards: G1067665720, G1167214205, G1251622756, G1297482482, G1516346500, G1517206771, HOME-, CLINIC- AND LAB-BASED QUANTITATIVE MEASURES TO CAPTURE AND TRACK THE PRECLINICAL STAGE OF MACHADO-JOSEPH DISEASE/SPINOCEREBELLAR ATAXIA TYPE 3, Iniciativa Europeia para a doença de Machado-Joseph / Ataxia Espinocerebelosa do tipo 3, G1577006909, G1578237752, G1718365834, G1721867137, G1754748899, G1792917683, Accelerating Research & Development for Advanced Therapies, Centro de Inovação em Biomedicina e Biotecnologia, G2026573482, G2120309575, G2737160601, G2822593181, The Gene Therapy CoE at the Center of Portugal, Excellence Hub for Advancing Innovation in Gene Therapy, G284566366, G2874421014, G2916289761, G3021774831, G3283747461, G3331143879, G3446186371, JPND Verbundprojekt ESMI: Europäische Spinozerebelläre Ataxie Typ 3 / Machado-Joseph-Krankheit Initiative, G362248726, G369877313, G377243936, G3891694003, G4015828041, G4043800417, G4043948634, NEURODIET - Mecanismos Moleculares de Intervenções Nutricionais na Neurodegenerescência (PT001)<br>, G434337789, G4568990339, G4705738886, G4724859719, G491858407, G521440229, From Gene to Cure, G5642561709, G570886099, Centro de Inovação em Biomedicina e Biotecnologia, G639142419, G6489502975, G6600917766, G6658301742, G6886798228, G7067039375, G7155227525, Centro de Inovação em Biomedicina e Biotecnologia - Laboratório Associado, G7331859268, G7478652509, Raising knowledge and developing technology for the design and deployment of high-performance power transformers immersed in biodegradable fluids “BIOTRAFO”, G810402943, G8478530080, G8694460396, ERA-NET for establishing synergies between the Joint Programming on Neurodegenerative Diseases Research and Horizon 2020, G8913388017, G9000131804
OpenAlex ID: W4415295939