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

• Published in: Neuromuscular disorders : NMD Vol. 34; pp. 1 - 8
• Main Authors: Martinez-Marin, Rafael Jenaro, Reyes-Leiva, David, Nascimento, Andrés, Muelas, Nuria, Dominguez-González, C., Paradas, Carmen, Olivé, Montse, García-Romero, Mar, Pascual-Pascual, Samuel Ignacio, Grau, Josep Maria, Barba-Romero, Miguel Angel, Gomez-Caravaca, Maria Teresa, de las Heras, Javier, Casquero, Pilar, Mendoza, Maria Dolores, de León, Juan Carlos, Gutierrez, Antonio, Morís, Germán, Blanco-Lago, Raquel, Ramos-Fransi, Alba, Pintós, Guillem, García-Antelo, Maria José, Rabasa, Maria, Morgado, Yolanda, Usón, Mercedes, Miralles, Francisco Javier, Bárcena-Llona, Jose Eulalio, Gómez-Belda, Ana Belén, Pedraza-Hueso, Maria Isabel, Hortelano, Miryam, Colomé, Antoni, Garcia-Martin, Guillermina, Lopez de Munain, Adolfo, Jericó, Ivonne, Galán-Dávila, Lucía, Pardo, Julio, Salgueiro-Origlia, Giorgina, Alonso-Pérez, Jorge, Pla-Junca, Francesc, Schiava, Marianela, Segovia-Simón, Sonia, Díaz-Manera, Jordi
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.01.2024
• Subjects: Acid maltase deficiency; Enzymatic replacement therapy; Glycogen storage disease type II; Myozime; Patient registry; Pompe disease; Spanish Pompe registry; Pompe disease; Spanish Pompe registry; Glycogen storage disease type II; Myozime; Patient registry; Acid maltase deficiency; Enzymatic replacement therapy
• ISSN: 0960-8966; 1873-2364; 1873-2364
• DOI: 10.1016/j.nmd.2023.10.001

•We have been able to collect demographic, genetic and clinical data of a large series of patients with Pompe disease in Spain.•The estimated prevalence of Pompe disease in Spain is lower than expected and could around 3.1 cases per every millions of habitants.•The region with a higher prevalence of cases is Andalucia, located in the South of Spain.•Our data shows a huge variability in how the diagnosis is obtained and the follow-up is performed across different medical centers in Spain, suggesting that new guidelines are required. 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.