Registre Français de la Maladie de Pompe

Le Registre Français de la Maladie de Pompe a pour objectifs :

• Recenser de tous les patients atteints de maladie de Pompe en France
• Etudier l’histoire naturelle de la maladie (patients traités vs non traités)
• Evaluer les bénéfices de l’enzymothérapie et des autres traitements innovants (comparaison des traitements)
• Développement des recherches scientifiques sur la maladie de Pompe en France (collaborations)

Responsable Scientifique :

• 👤 Pascal LAFORËT
• 📧 pascal.laforet@aphp.fr

Chef de projet :

• 👤 Nadjib TAOUAGH
• 📧 nadjib.taouagh@aphp.fr

🔗Site internet 

Characteristics of Patients With Late-Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022.

Lefeuvre C, De Antonio M, Bouhour F, Tard C, Salort-Campana E, Lagrange E, Behin A, Sole G, Noury JB, Sacconi S, Magot A, Nadaj-Pakleza A, Lacour A, Beltran S, Spinazzi M, Cintas P, Renard D, Michaud M, Bedat-Millet AL, Prigent H, Taouagh N, Arrassi A, Hamroun D, Attarian S, Laforêt P; for Pompe Study Group.Neurology. 2023 Aug 29;101(9):e966-e977. doi: 10.1212/WNL.0000000000207547. Epub 2023 Jul 7.PMID: 37419682 Free PMC article.

Macroglossia: A potentially severe complication of late-onset Pompe disease.

Dupé C, Lefeuvre C, Solé G, Behin A, Pottier C, Duval F, Carlier RY, Prigent H, Lacau St Guily J, Arrassi A, Taouagh N, Hamroun D, Nicolas G, Laforêt P.Eur J Neurol. 2022 Jul;29(7):2121-2128. doi: 10.1111/ene.15330. Epub 2022 Apr 1.PMID: 35302691

Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe Registry.

Semplicini C, De Antonio M, Taouagh N, Béhin A, Bouhour F, Echaniz-Laguna A, Magot A, Nadaj-Pakleza A, Orlikowski D, Sacconi S, Salort-Campana E, Solé G, Tard C, Zagnoli F, Hogrel JY, Hamroun D, Laforêt P; French Pompe Study Group.J Inherit Metab Dis. 2020 Nov;43(6):1219-1231. doi: 10.1002/jimd.12272. Epub 2020 Jul 27.PMID: 32515844

Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.

Semplicini C, Letard P, De Antonio M, Taouagh N, Perniconi B, Bouhour F, Echaniz-Laguna A, Orlikowski D, Sacconi S, Salort-Campana E, Solé G, Zagnoli F, Hamroun D, Froissart R, Caillaud C, Laforêt P; French Pompe Study Group.J Inherit Metab Dis. 2018 Nov;41(6):937-946. doi: 10.1007/s10545-018-0243-7. Epub 2018 Aug 28.PMID: 30155607

Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease.

Papadopoulos C, Orlikowski D, Prigent H, Lacour A, Tard C, Furby A, Praline J, Solé G, Hogrel JY, De Antonio M, Semplicini C, Deibener-Kaminsky J, Kaminsky P, Eymard B, Taouagh N, Perniconi B, Hamroun D, Laforêt P; French Pompe Study Group.Mol Genet Metab. 2017 Sep;122(1-2):80-85. doi: 10.1016/j.ymgme.2017.06.007. Epub 2017 Jun 20.PMID: 28648663

Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients.

Masat E, Laforêt P, De Antonio M, Corre G, Perniconi B, Taouagh N, Mariampillai K, Amelin D, Mauhin W, Hogrel JY, Caillaud C, Ronzitti G, Puzzo F, Kuranda K, Colella P, Mallone R, Benveniste O, Mingozzi F; French Pompe Registry Study Group.Sci Rep. 2016 Nov 4;6:36182. doi: 10.1038/srep36182.PMID: 27812025 Free PMC article.

The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease.

Laforêt P, Laloui K, Granger B, Hamroun D, Taouagh N, Hogrel JY, Orlikowski D, Bouhour F, Lacour A, Salort-Campana E, Penisson-Besnier I, Sacconi S, Zagnoli F, Chapon F, Eymard B, Desnuelle C, Pouget J; French Pompe Registry Study Group.Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):595-602. doi: 10.1016/j.neurol.2013.07.002. Epub 2013 Sep 3.PMID: 24008051