The utility of the national Pompe disease registry in understanding causes of death and comorbidities

The French Pompe disease registry, which includes 200 patients, is an unrivalled source of clinical and biological data that provides a better understanding of the characteristics and progression of this disease:

• researchers, including clinicians from the Institute of Myology, analysed this data on a sample of 60 patients with late-onset Pompe disease (LOPD) who had since died.
• the median age at death was 70.5 years, which is below the national average,
• the age at diagnosis was relatively late (58 years),
• the causes of death could not be determined in a quarter of cases,
• barely half of the causes of death were directly related to Pompe disease,
• most often involving respiratory complications.

The authors also emphasise the frequency of cancers among other causes of death, but in this case not related to the disease itself.

Chitimus DM, Tard C, Fournier M, Bouhour F, Béhin A, Salort-Campana E, Lagrange E, Kaminsky AL, Magot A, Beltran S, Noury JB, Magy L, Solé G, Renard D, Spinazzi M, Demurger F, Cintas P, Nadaj-Pakleza A, Deibener-Kaminsky J, Bassez G, Taouagh N, Arrassi A, Lefeuvre C, Attarian S, Hamroun D, Laforêt P; for French Pompe study group. Causes of Death and Comorbidities in Adult Patients With Late-Onset Pompe Disease: A French Pompe Registry Retrospective Study. Eur J Neurol. 2025 Oct;32(10):e70394. doi: 10.1111/ene.70394. PMID: 41140054; PMCID: PMC12554947.