Characteristics of Patients With Late Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022.

This update confirms previous findings for the adult population included in the French Pompe disease registry, but with a lower clinical severity at inclusion, suggesting that this rare disease is now diagnosed earlier, thanks to greater awareness among physicians. The 6MWT remains an important method for assessing motor performance and walking ability.The French Pompe disease registry provides an exhaustive, nationwide overview of Pompe disease, and can be used to assess individual and global responses to future treatments.