Long-term benefit of ERT in adults with Pompe disease

Pompe disease is caused by a mutation in the GAA gene, which codes for acid alpha-glucosidase. The standard treatment is enzyme replacement therapy (ERT), which consists in providing a recombinant enzyme to compensate for the lack of acid alpha-glucosidase (Myozyme®). More than 90% of patients diagnosed in France are adults. Since the commercialization of enzyme replacement therapy, all studies in adults have so far shown an increase in walking distance and a tendency to stabilize respiratory function, but the majority of these studies were less than 5 years of duration.

The authors report here the results of a study carried out on 158 treated patients included in the French Pompe Registry, who underwent regular clinical assessments based on commonly used standardized tests (6-minute walk test (6MWT) , MFM scale, seated vital capacity, MIP and MEP). For longitudinal analyzes, linear mixed-effect models were used to assess trends in primary endpoints over time in the ERT.

This study provides additional evidence that ERT improves walking ability and likely stabilizes respiratory function in adult patients with Pompe disease, with a ceiling effect for 6MWT in the first 3 years of treatment.


Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry. Semplicini C, De Antonio M, Taouagh N, Béhin A, Bouhour F, Echaniz-Laguna A, Magot A, Nadaj-Pakleza A, Orlikowski D, Sacconi S, Salort-Campana E, Solé G, Tard C, Zagnoli F, Jean-Yves H, Hamroun D, Laforêt P; French Pompe Study Group, Attarian S, Aubé-Nathier AC, Arrassi A, Bassez G, Bedat-Millet AL, Bouibede F, Boyer FC, Caillaud C, Canal A, Carlier RY, Chanson JB, Chapon F, Cintas P, Deibener-Kaminsky J, Demurger F, Desnuelle C, Durieu I, Eymard B, Feasson L, Fournier M, Froissart R, Furby A, Garcia PY, Germain DP, Ghorab K, Morales RJ, Krim E, Labauge P, Lacour A, Lagrange E, Lefeuvre C, Leguy-Seguin V, Leonard-Louis S, Magy L, Masseau A, Michaud M, Minot-Myhié MC, Nicolas G, Nollet S, Not A, Noury JB, Ollivier G, Péréon Y, Perez T, Perniconi B, Piraud M, Petiot P, Pouget J, Praline J, Prigent H, Renard D, Spinazzi M, Stojkovic T, Taithe F, Tiffreau V, Vincent D. J Inherit Metab Dis. 2020 Jun 9. doi: 10.1002/jimd.12272. [Epub ahead of print]