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, Jean-Yves H, Hamroun D, Laforêt P; French Pompe Study Group
J Inherit Metab Dis. 2020. doi: 10.1002/jimd.12272.
This study reports the findings from 158 patients treated by Enzyme Replacement Therapy and included in a French Pompe Registry.
A two-phases model described the changes in MFM scores after treatment implementation. MFM total score showed an initial significant increase (6.6% ±2.3/year) followed by a -1.13%/year (change of slope: -7.7 ±2.3, p<0.01) decline after 0.5 years. D1and D2 sub-scores showed a progressive decline (-1.0%±0.1/year, p<0.001), while D3 score showed a slow progressive decline (-0.2%±0.1/year, p<0.05), confirming that the distal muscle functions impairment is minimal in Pompe Disease..
Keywords: Pompe disease, Sensitivity to change
Articles in scientific journals
Relationship between muscle strength and motor function in Duchenne muscular dystrophy
Nunes MF, Hukuda ME, Favero FM, Oliveira AB, Voos MC, Caromano FA. Arq Neuropsiquiatr. 2016. 74(7):530-5. This study investigates the relationship between muscle strength as measured by Medical Research Council (MRC) scale and MFM and between these variables and age...
Influence of a two-year steroid treatment on body composition as measured by Dual X-Ray Absorptiometry in boys with Duchenne Muscular Dystrophy
Vuillerot C, Braillon P, Fontaine-Carbonnel S, Rippert P, André E, Iwaz J, Poirot I, Bérard C. Neuromuscul Disord. 2014. 24:467-473. Assessment of effects of long term steroid treatments on body composition, assessed by Dual X-Ray absorptiometry, in 21 patients with...
The applicability of four clinical methods to evaluate arm and hand function in all stages of spinal muscular atrophy type II.
Werlauff U, Fynbo Steffensen B. Disabil Rehabil. 2014. 36(25):2120-6. Assessment of ability of 4 clinical methods to reflect arm and hand function at impairment and activity level and to determine their ability to discriminate among SMA II patients of all ages and in...
Diaphragmatic dysfunction in Collagen VI myopathies
Quijano-Roy S, Khirani S, Colella M, Ramirez A, Aloui S, Wehbi S, de Becdelievre A, Carlier RY, Allamand V, Richard P, Azzi V, Estournet B, Fauroux B. Neuromuscul Disord. 2014. 24(2):125-33. A pilot study aimed at characterizing the respiratory muscle phenotype in...
Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients
E. Mazzone, R. De Sanctis, L. Fanelli, F. Bianco, M. Main, M. van den Hauwe, M. Ash, R. de Vries, J. Fagoaga Mata, K. Schaefer, A. D’Amico, G. Colia, C. Palermo, M. Scoto, A. Mayhew, M. Eagle, L. Servais, M. Vigo, A. Febrer, R. Korinthenberg, M. Jeukens M. de Viesser,...
Création et validation d’une classification en grade de sévérité dans les maladies neuromusculaires : la classification NM-Score
Vuillerot C, Rippert P, Roche S, Bérard C, Margirier F, de Lattre C, Poirot I, Berruyer A, Tiffreau V, Fournier-Mehouas M, Bouhour F, Urtizberea JA, Renders A, Ecochard R; Le groupe d’étude NM-Score. Ann Phys Rehabil Med. 2013. 56(9-10):673-86. Development of a...