Recommendations for the diagnosis, treatment, and follow-up of late-onset Pompe disease
Year: 2025
Type: article
Abstract: Pompe disease or glycogenosis type II is a rare disease caused by mutations in the GAA gene that leads to deficiency of the acid alpha-1,4-glucosidase enzyme. As a result of the enzymatic defect, a progressive accumulation of intralysosomal glycogen occurs in various tissues, causing smooth, cardiac and skeletal muscle involvement. When the age of onset of the disease is after the first year of life, it is called late-onset Pompe disease (LOPD). Weakness of the axial and proximal waist muscles and respiratory dysfunction are common manifestations. Enzyme replacement therapy (ERT) has been available for more than 15 years and is the standard treatment. This therapy changes the course of the disease, although the effectiveness of the treatment reduces over time. New enzyme therapies represent new treatment opportunities for patients with LOPD. Here we present updated recommendations from a group of experts in Pompe disease on the diagnosis, treatment and follow-up of LOPD patients, with the aim of providing a guide for the clinical management of the disease.
Source: Neurología (English Edition)
Authors: C. Domínguez-González, M.Á. Barba Romero, C. Caballero Eraso, J. de las Heras, E. Farrero Muñoz, Ó. García-Campos, M. González, J.M. Grau, A. Hernández-Voth, R. Juntas Morales, J.C. León Hernández, M. Ley Martos, D. López-Padilla, N. Muelas, A. Nascimento, M. Olivé, C. Paradas, J. Pardo Fernández, S.I. Pascual, I. Pitarch, J. Sancho, J. Díaz-Manera
Institutions: Research Institute Hospital 12 de Octubre, Hospital Universitario 12 De Octubre, Centre for Biomedical Network Research on Rare Diseases, Centro de Investigación Biomédica en Red, Complejo Hospitalario Universitario de Albacete, University of Castilla-La Mancha, Hospital Universitario Virgen del Rocío, University of the Basque Country, Hospital de Cruces, Bellvitge University Hospital, Complejo Hospitalario Universitario de Toledo, Hospital Universitario de Toledo, Universidad de Cantabria, Marqués de Valdecilla University Hospital, Instituto de Investigación Marqués de Valdecilla, Hospital Clínic de Barcelona, Vall d'Hebron Hospital Universitari, Hospital Universitario Puerta del Mar, Universidad Complutense de Madrid, Hospital General Universitario Gregorio Marañón, Universitat de València, Instituto de Salud Carlos III, Hospital Universitari i Politècnic La Fe, Instituto de Investigación Sanitaria La Fe, Hospital Sant Joan de Déu Barcelona, Hospital de Sant Pau, Biomedical Research Networking Center on Neurodegenerative Diseases, Instituto de Biomedicina de Sevilla, Complejo Hospitalario Universitario de Santiago, Hospital Universitario La Paz, Hospital Clínico Universitario de Valencia, Institut de Recerca Sant Pau
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,034
Funder: Sanofi
OpenAlex ID: W7117237156