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

Date publication

mai 2023

Journal

European journal of neurology

Auteurs

Membres identifiés du Cancéropôle Est :
Pr HUET Frédéric

Tous les auteurs :
Tardieu M, Cudejko C, Cano A, Hoebeke C, Bernoux D, Goetz V, Pichard S, Brassier A, Schiff M, Feillet F, Rollier P, Mention K, Dobbelaere D, Fouilhoux A, Espil-Taris C, Eyer D, Huet F, Walther-Louvier U, Barth M, Chevret L, Kuster A, Lefranc J, Neveu J, Pitelet G, Ropars J, Rivier F, Roubertie A, Touati G, Vanhulle C, Tardieu E, Caillaud C, Froissart R, Champeaux M, Labarthe F, Chabrol B

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/37235686

Résumé

Classical infantile-onset Pompe disease (IOPD) is the most severe form of Pompe disease. Enzyme replacement therapy (ERT) has significantly increased survival but only few studies reported long-term outcomes.

Mots clés

ERT (Enzyme Replacement Therapy), IOPD (Infantile-onset Pompe disease), Immunomodulation, long-term outcomes

Référence

Eur J Neurol. 2023 05 26;: