Recommendations for the diagnosis, treatment, and follow-up of late-onset Pompe disease

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.

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Publication Details

Journal
Neurología (English Edition)
Published
2025-12-25
DOI
https://doi.org/10.1016/j.nrleng.2025.501933
Primary Topic
Lysosomal Storage Disorders Research
Type
article
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article

Recommendations for the diagnosis, treatment, and follow-up of late-onset Pompe disease

Jenn Hernandez, Si Pascual, M. Romero, I. Pitarch et al.
Neurología (English Edition)
Lysosomal Storage Disorders Research
article

Recommendations for the diagnosis, treatment, and follow-up of late-onset Pompe disease

Jenn Hernandez, Si Pascual, M. Romero, I. Pitarch, N. Muelas, D. López-Padilla, E. Farrero Muñoz, A. Nascimento, J. Díaz-Manera, J. de las Heras, J. Pardo Fernández, C. Paradas, R. Juntas Morales, A. Hernández-Voth, C. Domínguez-González, J. Sancho, M. Ley Martos, M. Olivé, M. González, Ó. García-Campos, J.M. Grau, C. Caballero Eraso
article en

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.

Neurología (English Edition)Vol. 41(2)
Universidad Complutense de Madrid (ES), Hospital Sant Joan de Déu Barcelona (ES), University of the Basque Country (ES), Hospital Universitario de Canarias (ES), Hospital Universitario La Paz (ES), Hospital de Sant Pau (ES), Bellvitge University Hospital (ES), Hospital General Universitario Gregorio Marañón (ES), Hospital Universitari i Politècnic La Fe (ES), Biomedical Research Networking Center on Neurodegenerative Diseases (ES), Hospital Universitario Nuestra Señora de Candelaria (ES), Hospital Clínico Universitario de Valencia (ES), Centro de Investigación en Red en Enfermedades Cardiovasculares (ES), Complejo Hospitalario Universitario de Santiago (ES), Hospital Universitario 12 De Octubre (ES), Instituto de Investigación Marqués de Valdecilla (ES), Centro de Investigación Biomédica en Red (ES), Hospital Clínic de Barcelona (ES), Vall d'Hebron Hospital Universitari (ES), Hospital de Cruces (ES), Hospital Universitario Puerta del Mar (ES), Hospital Universitario Virgen del Rocío (ES), Complejo Hospitalario Universitario de Albacete (ES), Instituto de Investigación de Enfermedades Raras (ES), Complejo Hospitalario Universitario de Toledo (ES), Instituto de Investigación Sanitaria La Fe (ES)
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Lysosomal Storage Disorders Research
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