Registre Français de la maladie de Pompe. Caractérisation d’une cohorte de 126 patients adultes

P. Laforêt, K. Laloui, B. Granger, D. Hamroun, N. Taouagh, JY. Hogrel, D. Orlikowski, F. Bouhour, A. Lacour, E. Salort-Campana, I. Penisson-Besnier, S. Sacconi, F. Zagnoli, F. Chapon, B. Eymard, C. Desnuelle, J. Pouget et le French Pompe Registry Study Group
Revue neurologique. 2013. 169:595-602.
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, Myozyme1), 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 centers. The MFM, which has been used to evaluate the level of impairment of muscle function, appears to be a useful tool, particularly with regard to the D1 domain. Good correlations between MFM scores and 6MWT confirmed the importance of the MFM measurement in the follow-up of patients with Pompe disease.

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Keywords: Pompe disease, Pompe registry, Acid alpha-glucosidase deficiency