Title :

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

Author(s) :

Tardieu, Marine [Auteur]
Cudejko, Céline [Auteur]
Cano, Aline [Auteur]
Hoebeke, Célia [Auteur]
Bernoux, Delphine [Auteur]
Goetz, Violette [Auteur]
Pichard, Samia [Auteur]
Brassier, Anais [Auteur]
Schiff, Manuel [Auteur]
Feillet, François [Auteur]
Rollier, Paul [Auteur]
Mention, Karine [Auteur]
Dobbelaere, Dries [Auteur]
Hôpital Jeanne de Flandres
Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
Fouilhoux, Alain [Auteur]
Espil-Taris, Caroline [Auteur]
Eyer, Didier [Auteur]
Huet, Frédéric [Auteur]
Walther-Louvier, Ulrike [Auteur]
Barth, Magalie [Auteur]
Chevret, Laurent [Auteur]
Kuster, Alice [Auteur]
Lefranc, Jérémie [Auteur]
Neveu, Julien [Auteur]
Pitelet, Gaele [Auteur]
Ropars, Juliette [Auteur]
Rivier, François [Auteur]
Roubertie, Agathe [Auteur]
Touati, Guy [Auteur]
Vanhulle, Catherine [Auteur]
Tardieu, Emilie [Auteur]
Caillaud, Catherine [Auteur]
Froissart, Roseline [Auteur]
Champeaux, Murielle [Auteur]
Labarthe, François [Auteur]
Chabrol, Brigitte [Auteur]

Journal title :

European Journal of Neurology

Abbreviated title :

Eur J Neurol

Volume number :

30

Pages :

2828-2837

Publisher :

Wiley

Publication date :

2023-05-26

ISSN :

1468-1331

English keyword(s) :

enzyme replacement therapy
immunomodulation
infantile-onset Pompe disease
long-term outcomes

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

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

Language :

Anglais

Peer reviewed article :

Oui

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Université de Lille
CHU Lille

Collections :

• Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Submission date :

2024-06-25T21:29:04Z
2024-10-03T14:08:35Z