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

Lookup NU author(s): Dr Marianela Schiava, Professor Jordi Diaz ManeraORCiD

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Abstract

© 2023Pompe 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.

Publication metadata

Author(s): Martinez-Marin RJ, Reyes-Leiva D, Nascimento A, Muelas N, Dominguez-Gonzalez C, Paradas C, Olive M, Garcia-Romero M, Pascual-Pascual SI, Grau JM, Barba-Romero MA, Gomez-Caravaca MT, de las Heras J, Casquero P, Mendoza MD, de Leon JC, Gutierrez A, Moris G, Blanco-Lago R, Ramos-Fransi A, Pintos G, Garcia-Antelo MJ, Rabasa M, Morgado Y, Uson M, Miralles FJ, Barcena-Llona JE, Gomez-Belda AB, Pedraza-Hueso MI, Hortelano M, Colome A, Garcia-Martin G, Lopez de Munain A, Jerico I, Galan-Davila L, Pardo J, Salgueiro-Origlia G, Alonso-Perez J, Pla-Junca F, Schiava M, Segovia-Simon S, Diaz-Manera J

Publication type: Article

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2024

Volume: 34

Pages: 1-8

Print publication date: 01/01/2024

Online publication date: 13/11/2023

Acceptance date: 08/10/2023

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier Ltd

URL: https://doi.org/10.1016/j.nmd.2023.10.001

DOI: 10.1016/j.nmd.2023.10.001

PubMed id: 38087756

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