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.
