The French Pompe disease registry turns 18

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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).

 

Characteristics of Patients With Late Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022. Lefeuvre C, Antonio M, Bouhour F et al. Neurology. 2023 Jul 7:10.1212/WNL.0000000000207547.

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