Created in 2004, the French registry for Pompe disease collects prospective clinical and biological data on people with this disease.
- In 2022, thanks to the collaboration of the 31 reference centres for rare neuromuscular and metabolic diseases, the register includes 210 patients with the adult form of the disease.
- One hundred and seventy-seven received enzyme replacement therapy (ERT) and 33 remained untreated (some for 12 years).
- On average, 64% of them were walking unaided at the inclusion visit, compared with 55% 10 years earlier, probably reflecting earlier diagnosis by better-informed clinicians.
- Thirty-seven per cent were on respiratory assistance (29% on NIV, 8% on tracheostomy).
- Of the 60 patients on NIV, 46 were able to walk with or without assistance.
- In 12 patients, the disease appeared after the age of 60 (mean age at diagnosis: 67±4.4 years): seven were walking unaided and five with a cane.
- A comparison between two matched groups of 24 patients without treatment and 158 with treatment showed a significant improvement in the 6-minute walk test and vital capacity in the sitting position under treatment.
- Forty-eight patients (22%) suffered from gastrointestinal symptoms (diarrhoea, chronic constipation, etc.), 15% from urinary problems, and 11% from dysphagia (mainly associated with macroglossia).
