Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.

Autor: Martinez-Marin RJ; NeuService, Hospital La Paz Institute for Health Research - IdiPAZ (La Paz University Hospital - Universidad Autónoma de Madrid, Madrid, Spain., Reyes-Leiva D; Institut de Recerca Biomedica Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; CIBERER, Spain., Nascimento A; Servicio de Neuropediatría, CIBERER, ERN-NMD, Hospital Sant Joan de Deu, Esplugues de Llobregat, Barcelona, Spain., Muelas N; CIBERER, Spain; Neurology Service, Hospital La Fe de Valencia, Valencia, Spain., Dominguez-González C; CIBERER, Spain; Neurology Service, Hospital 12 de Octubre, imas12 Research Institute, ERN-NMD, Madrid, Spain., Paradas C; Neurology Service, Hospital Virgen del Rocío, Sevilla, Spain., Olivé M; Institut de Recerca Biomedica Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; CIBERER, Spain; Neuromuscular Diseases Unit, Neurology Service, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain., García-Romero M; Neuropaediatrics Service, Hospital Universitario La Paz, Madrid, Spain., Pascual-Pascual SI; Neuropaediatrics Service, Hospital Universitario La Paz, Madrid, Spain., Grau JM; Internal Medicine Service, Hospital Clínic de Barcelona, Barcelona, Spain., Barba-Romero MA; Internal Medicine Service, Hospital Universitario General de Albacete, Albacete, Spain., Gomez-Caravaca MT; Neurology Service, Hospital Reina Sofía de Córdoba, Córdoba, Spain., de Las Heras J; Division of Pediatric Metabolism at Cruces University Hospital, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), Biocruces-Bizkaia Health Research Institute and University of the Basque Country (UPV/EHU), Barakaldo, Spain., Casquero P; Neurology Service, Hospital Mateu Orfila, Menorca, Spain., Mendoza MD; Neurology Service, Hospital Dr Negrín, Gran Canaria, Spain., de León JC; Neurology Service, Hospital Universitario Nuestra Señora de la Candelaria, Tenerife, Spain., Gutierrez A; Neurology Service, Hospital Insular, Gran Canaria, Spain., Morís G; Neurology Service, Hospital Universitario Central de Asturias, Oviedo, Spain., Blanco-Lago R; Paediatrics Service, Hospital Universitario Central de Asturias, Oviedo, Spain., Ramos-Fransi A; Neurology Service, Hospital Universitario Germans Trias i Pujol, Badalona, Spain., Pintós G; Internal Medicine Service, Hospital Universitario Vall d'Hebron, Barcelona, Spain., García-Antelo MJ; Neurology Service, Hospital Universitario de A Coruña, A Coruña, Spain., Rabasa M; Neurology Service, Hospital Universitario de Fuenlabrada, Madrid, Spain., Morgado Y; Neurology Service, Hospital de Valme, Sevilla, Spain., Usón M; Neurology Service, Hospital Universitario Son Llatzer, Palma de Mallorca, Spain., Miralles FJ; Neurology Service, Hospital Universitario Son Espases, Palma de Mallorca, Spain., Bárcena-Llona JE; Neurology Service, Hospital Universitario de Cruces, Barakaldo, Spain., Gómez-Belda AB; Servicio de Medicina Interna, Hospital Universitario Dr Peset, Valencia, Spain., Pedraza-Hueso MI; Servicio de Neurología, Hospital Universitario de Valladolid, Valladolid, Spain., Hortelano M; Paediatric Service, Hospital Universitario de Segovia, Segovia Spain., Colomé A; Internal Medicine Service, Hospital de Terrassa, Barcelona, Spain., Garcia-Martin G; Neurology Service, Hospital Regional Universitario Carlos Haya de Málaga., Lopez de Munain A; Neurology Service, Instituto Biodonostia-CIBERNED-EHU-UPV, Hospital Universitario Donostia-OSAKIDETZA, Spain., Jericó I; Neurology Service, Complejo Hospitalario de Navarra, Spain., Galán-Dávila L; Neurology Service, Hospital Universitario Clínico San Carlos, Madrid, Spain., Pardo J; Neurology Service, Hospital Universitario de Santiago de Compostela, Santiago de Compostela. Spain., Salgueiro-Origlia G; Internal Medicine Service, Hospital La Paz Institute for Health Research - IdiPAZ (La Paz University Hospital, Universidad Autónoma de Madrid, Spain., Alonso-Pérez J; Institut de Recerca Biomedica Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; CIBERER, Spain., Pla-Junca F; Institut de Recerca Biomedica Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; CIBERER, Spain., Schiava M; John Walton Muscular Distrophy Research Center, Newcastle University, UK., Segovia-Simón S; Institut de Recerca Biomedica Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; CIBERER, Spain., Díaz-Manera J; Institut de Recerca Biomedica Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; CIBERER, Spain; John Walton Muscular Distrophy Research Center, Newcastle University, UK. Electronic address: jordi.diaz-manera@newcastle.ac.uk.
Jazyk: angličtina
Zdroj: Neuromuscular disorders : NMD [Neuromuscul Disord] 2024 Jan; Vol. 34, pp. 1-8. Date of Electronic Publication: 2023 Nov 13.
DOI: 10.1016/j.nmd.2023.10.001
Abstrakt: Pompe disease is a rare genetic disorder with an estimated prevalence of 1:60.000. The two main phenotypes are Infantile Onset Pompe Disease (IOPD) and Late Onset Pompe Disease (LOPD). There is no published data from Spain regarding the existing number of cases, regional distribution, clinical features or, access and response to the treatment. We created a registry to collect all these data from patients with Pompe in Spain. Here, we report the data of the 122 patients registered including nine IOPD and 113 LOPD patients. There was a high variability in how the diagnosis was obtained and how the follow-up was performed among different centres. Seven IOPD patients were still alive being all treated with enzymatic replacement therapy (ERT) at last visit. Ninety four of the 113 LOPD patients had muscle weakness of which 81 were receiving ERT. We observed a progressive decline in the results of muscle function tests during follow-up. Overall, the Spanish Pompe Registry is a valuable resource for understanding the demographics, patient's journey and clinical characteristics of patients in Spain. Our data supports the development of agreed guidelines to ensure that the care provided to the patients is standardized across the country.
Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright © 2023. Published by Elsevier B.V.)
Databáze: MEDLINE
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