dc.contributor
Institut Català de la Salut
dc.contributor
[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
dc.contributor
Vall d'Hebron Barcelona Hospital Campus
dc.contributor.author
Jovanovic, Ana
dc.contributor.author
Miller-Hodges, Eve
dc.contributor.author
Castriota, Felicia
dc.contributor.author
Evuarherhe, Obaro
dc.contributor.author
Ayodele, Olulade
dc.contributor.author
hughes, derralynn
dc.contributor.author
Pintos-Morell, Guillem
dc.date.accessioned
2025-10-24T08:50:54Z
dc.date.available
2025-10-24T08:50:54Z
dc.date.issued
2025-10-14T08:45:49Z
dc.date.issued
2025-10-14T08:45:49Z
dc.identifier
Jovanovic A, Miller-Hodges E, Castriota F, Evuarherhe O, Ayodele O, Hughes D, et al. Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review. J Clin Med. 2025 Jul;14(14):5131.
dc.identifier
http://hdl.handle.net/11351/13843
dc.identifier
10.3390/jcm14145131
dc.identifier
001535764400001
dc.identifier.uri
http://hdl.handle.net/11351/13843
dc.description.abstract
Fabry disease; Agalsidase alfa; Effectiveness
dc.description.abstract
Enfermedad de Fabry; Agalsidasa alfa; Efectividad
dc.description.abstract
Malaltia de Fabry; Agalsidasa alfa; Efectivitat
dc.description.abstract
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.
dc.description.abstract
The systematic literature review was funded by Takeda Development Center Americas, Inc.
dc.format
application/pdf
dc.relation
Journal of Clinical Medicine;14(14)
dc.relation
https://doi.org/10.3390/jcm14145131
dc.rights
Attribution 4.0 International
dc.rights
http://creativecommons.org/licenses/by/4.0/
dc.rights
info:eu-repo/semantics/openAccess
dc.subject
Avaluació de resultats (Assistència sanitària)
dc.subject
Fabry, Malaltia de - Tractament
dc.subject
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment Outcome
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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
dc.subject
Other subheadings::Other subheadings::/therapy
dc.subject
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamiento
dc.subject
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
dc.subject
Otros calificadores::Otros calificadores::/terapia
dc.title
Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review
dc.type
info:eu-repo/semantics/article
dc.type
info:eu-repo/semantics/publishedVersion
