title: The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease.
abstract: 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(®)), 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.
authors.affiliation: Centre de référence de pathologie neuromusculaire Paris-Est, institut de myologie, groupe hospitalier Pitié-Salpêtrière, 47-83, boulevard de l'Hôpital, 75013 Paris, France. Electronic address: pascal.laforet@psl.aphp.fr.
authors.forename: P
authors.initials: P
authors.lastname: Laforêt
authors.forename: K
authors.initials: K
authors.lastname: Laloui
authors.forename: B
authors.initials: B
authors.lastname: Granger
authors.forename: D
authors.initials: D
authors.lastname: Hamroun
authors.forename: N
authors.initials: N
authors.lastname: Taouagh
authors.forename: J-Y
authors.initials: JY
authors.lastname: Hogrel
authors.forename: D
authors.initials: D
authors.lastname: Orlikowski
authors.forename: F
authors.initials: F
authors.lastname: Bouhour
authors.forename: A
authors.initials: A
authors.lastname: Lacour
authors.forename: E
authors.initials: E
authors.lastname: Salort-Campana
authors.forename: I
authors.initials: I
authors.lastname: Penisson-Besnier
authors.forename: S
authors.initials: S
authors.lastname: Sacconi
authors.forename: F
authors.initials: F
authors.lastname: Zagnoli
authors.forename: F
authors.initials: F
authors.lastname: Chapon
authors.forename: B
authors.initials: B
authors.lastname: Eymard
authors.forename: C
authors.initials: C
authors.lastname: Desnuelle
authors.forename: J
authors.initials: J
authors.lastname: Pouget
mesh_terms: D000328:Adult; D017677:Age Distribution; D001706:Biopsy; D015331:Cohort Studies; D005260:Female; D005602:France / Q000453:epidemiology; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000473:pathology; D012042:Registries; D000520:alpha-Glucosidases / Q000235:genetics / Q000378:metabolism
chemical_list: C509951:GAA protein, human; D000520:alpha-Glucosidases
keywords: Acid alpha-glucosidase deficiency; Déficit en alpha-glucosidase acide; Maladie de Pompe; Pompe disease; Pompe registry; Registre de la maladie de Pompe