News of enzyme therapy in Pompe disease

Several laboratories are developing recombinant enzymes for the treatment of Pompe disease: Sanofi-Genzyme, already the originator of the first marketed treatment, Myozyme, has developed a new treatment, Nexviadyme®, while Amicus Therapeutics has developed a treatment combining a recombinant enzyme (Pombiliti®) and a chaperone molecule (Opfolda®).

• Using data from the international registry (more than 300 patients with the congenital form), the team led by Professor Priya Kishnani (United States) has shown that increasing the dose of Myozyme improves survival and delays the need for assisted ventilation.
• A new analysis of the results of the COMET trial evaluating Nexviadyme in the late form of the disease shows the superiority of this product over Myozyme in stabilising vital capacity, provided that a patient whose respiratory impairment was linked to asthma and COPD was excluded. This trend has been confirmed by another real-life study involving 15 patients monitored by Prof Kishnani’s team.
• The four-year results of the ATB200-02 trial evaluating a treatment combining two compounds, Pombiliti and Opfolda, in 29 participants showed an improvement in the six-minute walk test and stabilisation of vital capacity.

Steps are currently being taken to market these new treatments in France, with Nexviadyme receiving early access authorisation and the combination of Pombiliti and Opfolda receiving European marketing authorisation.

 

Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry. Kishnani PS, Kronn D, Suwazono S et al. Orphanet J Rare Dis. 2023 Dec

 

Post-hoc Nonparametric Analysis of Forced Vital Capacity in the COMET Trial Demonstrates Superiority of Avalglucosidase Alfa vs Alglucosidase Alfa. Boentert M, Salort Campana E, Attarian S et al. J Neuromuscul Dis. 2023 Dec

 

Real-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfa. Carter C, Boggs T, Case LE et al. Front Genet. 2024 Jan

 

Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02). Byrne BJ, Schoser B, Kishnani PS J Neurol. 2023 Dec

 

Voir aussi « Maladie de Pompe : où en sont les traitements par enzymothérapie ?»