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
Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies.
Jain MS, Meilleur K, Kim E, Norato G, Waite M, Nelson L, McGuire M, Duong T, Keller K, Lott DJ, Glanzman A, Rose K, Main M, Fiorini C, Chrismer I, Linton M, Punjabi M, Elliott J, Tounkara F, Vasavada R, Logaraj R, Winkert J, Donkervoort S, Leach M, Dastgir J, Hynan L,...
Effect of Combination l-Citrulline and Metformin Treatment on Motor Function in Patients With Duchenne Muscular Dystrophy: A Randomized Clinical Trial
Hafner P, Bonati U, Klein A, Rubino D, Gocheva V, Schmidt S, Schroeder J, Bernert G, Laugel V, Steinlin M, Capone A, Gloor M, Bieri O, Hemkens LG, Speich B, Zumbrunn T, Gueven N, Fischer D. JAMA Netw Open. 2019. 2;2(10):e1914171. Results of a single-center randomized...
Tamoxifen in Duchenne muscular dystrophy (TAMDMD): study protocol for a multicenter, randomized, placebo-controlled, double-blind phase 3 trial.
Nagy S, Hafner P, Schmidt S, Rubino-Nacht D, Schädelin S, Bieri O, Fischer D. Trials. 2019. 20(1), 637. Protocol of a multicenter, randomized, double-blind, placebo-controlled phase III trial study aiming to demonstrate safety and efficacy of tamoxifen over placebo in...
Adult MTM1-related myopathy carriers: Classification based on deep phenotyping
Cocanougher BT, Flynn L, Yun P, Jain M, Waite M, Vasavada R, Wittenbach JD, de Chastonay S, Chhibber S, Innes AM, MacLaren L, Mozaffar T, Arai AE, Donkervoort S, Bönnemann CG, Foley AR. Neurology. 2019. 93 (16), e1535-e1542. Results of a cohort study performed at the...
Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study.
LoRusso S, Johnson NE, McDermott MP, Eichinger K, Butterfield RJ, Carraro E, Higgs K, Lewis L, Mul K, Sacconi S, Sansone VA, Shieh P, van Engelen B, Wagner K, Wang L, Statland JM, Tawil R; ReSolve Investigators and the FSHD CTRN. BMC Neurol. 2019. 10;19(1):224. The...
Association Between Health-Related Quality of Life and Motor Function in Ambulant and Nonambulant Duchenne Muscular Dystrophy Patients
Gocheva V, Schmidt S, Orsini AL, Hafner P, Schaedelin S, Rueedi N, Weber P, Fischer D. J Child Neurol. 2019. 34(14), 873-885. This cross-sectional study showed several moderate to high correlations between different aspects of the generic and disease-specific...