Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study

• DOI: 10.1111/ene.15894
• Publication Date: 2023-05-26T17:59:22Z
• Authors: Marine Tardieu; Céline Cudejko; Aline Cano; Célia Hoebeke; Delphine Bernoux; Violette Goetz; Samia Pichard; Anaïs Brassier; Manuel Schiff; François Feillet; Paul Rollier; Karine Mention; Dries Dobbelaere; Alain Fouilhoux; Caroline Espil‐Taris; Didier Eyer; Frédéric Huet; Ulrike Walther‐Lo...; Magalie Barth; Laurent Chevret; Alice Kuster; Jérémie Lefranc; Julien Neveu; Gaele Pitelet; Juliette Ropars; François Rivier; Agathe Roubertie; Guy Touati; Catherine Vanhulle; Emilie Tardieu; Catherine Caillaud; Roseline Froissart; Murielle Champeaux; François Labarthe; Brigitte Chabrol
• Keywords: Glycogen Storage Disease Type II; [SDV]Life Sciences [q-bio]; 610; Infant; immunomodulation; 3. Good health; [SDV] Life Sciences [q-bio]; Humans; Enzyme Replacement Therapy; infantile-onset Pompe disease; Child; Cardiomyopathies; long-term outcomes; enzyme replacement therapy; Follow-Up Studies; Retrospective Studies

Abstract Background Classical infantile‐onset Pompe disease (IOPD) is the most severe form of disease. Enzyme replacement therapy (ERT) has significantly increased survival but only a few studies have reported long‐term outcomes. Methods We retrospectively analyzed outcomes classical IOPD patients diagnosed in France between 2004 and 2020. Results Sixty‐four were identified. At diagnosis (median age 4 months) all had cardiomyopathy hypotonia (57 62 patients, 92%). ERT was initiated 50 (78%) stopped later due to being ineffective 10 (21%). Thirty‐seven (58%) died during follow‐up, including untreated discontinued 13 additional patients. Mortality higher first 3 years life after 12 years. Persistence follow‐up and/or presence heart failure highly associated with an risk death. In contrast, cross‐reactive immunologic material (CRIM)‐negative status ( n = 16, 26%) unrelated mortality, presumably because immunomodulation protocols prevent emergence high antibody titers ERT. Besides survival, decreased efficacy appeared 6 years, progressive decline motor pulmonary functions for survivors. Conclusions This study reports one largest cohorts demonstrates mortality morbidity rates secondary muscular respiratory functions. seems be multifactorial, highlighting importance developing new therapeutic approaches targeting various aspects pathogenesis.