Sistema de Salut de Catalunya
Institut Català de la Salut
[Jovanovic A] The Mark Holland Metabolic Unit, Northern Care Alliance NHS Foundation Trust, Salford, UK. [Miller-Hodges E] Centre for Cardiovascular Science, Queen’s Medical Research Institute, University of Edinburgh, Edinburgh, UK. [Castriota F, Ayodele O] Global Evidence and Outcomes, Data and Quantitative Sciences Institute, Takeda Development Center Americas, Inc., Cambridge, MA, USA. [Evuarherhe O] Oxford PharmaGenesis Ltd., Tubney, UK. [Hughes D] Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust, University College London, London, UK. [Pintos-Morell G] Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. MPS-Lisosomales Medical Committee, Barcelona, Spain
Vall d'Hebron Barcelona Hospital Campus
2025-10-14T08:45:49Z
2025-10-14T08:45:49Z
2025-07
Fabry disease; Agalsidase alfa; Effectiveness
Enfermedad de Fabry; Agalsidasa alfa; Efectividad
Malaltia de Fabry; Agalsidasa alfa; Efectivitat
Objectives: This systematic literature review aimed to identify studies assessing the clinical efficacy and real-world effectiveness of current and emerging treatments for Fabry disease. Methods: Searches of the MEDLINE, EMBASE, and Cochrane library databases, as well as relevant congress proceedings, were conducted to identify publications reporting on studies in patients of any age, sex, race, or ethnicity who received any approved or experimental treatment for Fabry disease, published before 17 June 2024. Results: Of 1881 publications screened, 234 reported data on renal, cardiac, cerebrovascular, and disease severity outcomes from 225 studies. The majority of reported studies were observational in nature (n = 150; 67%) and involved only adults (n = 172; 74%). Study designs and patient populations were highly heterogeneous, and cross-study conclusions about the effectiveness of different therapies could not be made. Enzyme replacement therapy (ERT) with agalsidase alfa or agalsidase beta stabilized renal function and cardiac structure in patients with Fabry disease. Early initiation of ERT in childhood or young adulthood was associated with better renal and cardiac outcomes than treatment initiation at a later age. The small number of comparator studies of agalsidase alfa and agalsidase beta suggested similar efficacy. Patients treated with migalastat and pegunigalsidase alfa also maintained stable renal function and cardiac structure. Conclusions: Overall, current treatments slow the progression of renal and cardiac decline in patients with Fabry disease. Large cohort studies with long-term follow-up and baseline stratification based on clinical phenotype are needed to address evidence gaps and provide clinicians with robust data to inform treatment decisions.
The systematic literature review was funded by Takeda Development Center Americas, Inc.
Article
Versió publicada
Anglès
Avaluació de resultats (Assistència sanitària); Fabry, Malaltia de - Tractament; ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment Outcome; DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Brain Diseases, Metabolic::Brain Diseases, Metabolic, Inborn::Lysosomal Storage Diseases, Nervous System::Sphingolipidoses::Fabry Disease; Other subheadings::Other subheadings::/therapy; TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamiento; ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades cerebrales metabólicas::enfermedades cerebrales metabólicas congénitas::enfermedades por almacenamiento lisosómico del sistema nervioso::esfingolipidosis::enfermedad de Fabry; Otros calificadores::Otros calificadores::/terapia
MDPI
Journal of Clinical Medicine;14(14)
https://doi.org/10.3390/jcm14145131
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
Articles científics - VHIR [1655]
