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.
Keywords: Pompe disease, Pompe registry, Acid alpha-glucosidase deficiency
Articles in scientific journals
Short-TERM Neuromuscular Electrical Stimulation Training of the Tibialis Anterior Did Not Improve Strength and Motor Function in Facioscapulohumeral Muscular Dystrophy Patients
Doix AM, Roeleveld K, Garcia J, Lahaut P, Tanant V, Fournier-Mehouas M, Desnuelle C, Colson SS, Sacconi S Am J Phys Med Rehabil. 2017. 96(4):e56-e63. Prospective study including 10 patients with facioscapulohumeral muscular dystrophy type 1 (FSHD1) and 10 healthy...
Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy
Bendixen RM, Butrum J, Jain MS, Parks R, Hodsdon B, Nichols C, Hsia M, Nelson L, Keller KC, McGuire M, Elliott JS, Linton MM, Arveson IC, Tounkara F, Vasavada R, Harnett E, Punjabi M, Donkervoort S, Dastgir J, Leach ME, Rutkowski A, Waite M, Collins J, Bönnemann CG,...
Reliability of home-based, motor function measure in hereditary neuromuscular diseases
Ruiz-Cortes X, Ortiz-Corredor F, Mendoza-Pulido C J Int Med Res. 2017. 45(1):261-271. The goal of the study was to compare the reliability of the MFM scale in the assessment of patients when administered at home and clinic. Results demonstrated excellent inter-rater...
Longitudinal Functional and NMR Assessment of Upper Limbs in Duchenne Muscular Dystrophy
Hogrel JY, Wary C, Moraux A, Azzabou N, Decostre V, Ollivier G, Canal A, Lilien C, Ledoux I, Annoussamy M, Reguiba N, Gidaro T, Le Moing AG, Cardas R, Voit T, Carlier PG, Servais L. Neurology. 2016. 15;86(11):1022-30. Twenty-five 53-skippable patients with DMD were...
Treatment with L-citrulline in patients with post-polio syndrome: study protocol for a single-center, randomised, placebo-controlled, double-blind trial
Schmidt S, Gocheva V, Zumbrunn T, Rubino-Nacht D, Bonati U, Fischer D, Hafner P Trials. 2017. 9;18(1):116. Protocol of a randomized, double-blind, placebo-controlled trial aiming to demonstrate determine if treatment with L-citrulline shows a positive effect on...
Postrehabilitation Functional Improvements in Patients With Inflammatory Myopathies: The Results of a Randomized Controlled Trial
Tiffreau V, Rannou F, Kopciuch F, Hachulla E, Mouthon L, Thoumie P, Sibilia J, Drumez E, Thevenon A Arch Phys Med Rehabil. 2017. 98(2):227-234. Multicenter randomized controlled trial, aiming to evaluate the medium-term functional effect and the effect on quality of...