Article

Pompe disease is a rare autosomal recessive muscle lysosomal glycogenosis,
characterised by limb-girdle muscle weakness and frequent respiratory
involvement. The French Pompe registry was created in 2004 with the initial aim
of studying the natural history of French patients with adult Pompe disease.
Since the marketing in 2006 of enzyme replacement therapy (alglucosidase alfa,
Myozyme((R))), the French Pompe registry has also been used to prospectively
gather the biological and clinical follow-up data of all adult patients currently
treated in France. This report describes the main clinical and molecular
features, at the time of inclusion in the French registry, of 126 patients
followed up in 21 hospital-based neuromuscular or metabolic centres. Sixty-five
men and 61 women have been included in the registry. Median age at inclusion was
49 years, and the median age at onset of progressive limb weakness was 35 years.
Fifty-five percent of the patients were walking without assistance, 24% were
using a stick or a walking frame, and 21% were using a wheelchair. Forty-six
percent of the patients needed ventilatory assistance, which was non-invasive in
35% of the cases. When performed, muscle biopsies showed specific features of
Pompe disease in less than two-thirds of the cases, confirming the importance of
acid alpha-glucosidase enzymatic assessment to establish the diagnosis. Molecular
analysis detected the common c.-32-13T>G mutation, in at least one allele, in 90%
of patients. The French Pompe registry is so far the largest country-based
prospective study of patients with Pompe disease, and further analysis will be
performed to study the impact of enzyme replacement therapy on the progression of
the disease.
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