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
Disease duration and disability in dysfelinopathy can be described by muscle imaging using heatmaps and random forests.
Gómez-Andrés D, Díaz J, Munell F, Sánchez-Montáñez Á, Pulido-Valdeolivas I, Suazo L, Garrido C, Quijano-Roy S, Bevilacqua JA. Muscle Nerve. 2019. 59(4), 436-444. The manner in which imaging patterns change over the disease course and with increasing disability in...
Two-minute versus 6-minute walk distances during 6-minute walk test in neuromuscular disease: Is the 2-minute walk test an effective alternative to a 6-minute walk test?
Witherspoon JW, Vasavada R, Logaraj RH, Waite M, Collins J, Shieh C, Meilleur K, Bönnemann C, Jain M. Eur J Paediatr Neurol. 2019. 23 (1), 165-170. The primary objective of this study is to establish the utility of the 2-min walk test (2MWT) in patients with...
Correlation of phenotype with genotype and protein structure in RYR1-related disorders
Todd JJ, Sagar V, Lawal TA, Allen C, Razaqyar MS, Shelton MS, Chrismer IC, Zhang X, Cosgrove MM, Kuo A, Vasavada R, Jain MS, Waite M, Rajapakse D, Witherspoon JW, Wistow G, Meilleur KG. J Neurol. 2018. 265(11), 2506-2524. Variants in the skeletal muscle ryanodine...
Nusinersen in spinal muscular atrophy type 1 patients older than 7 months: A cohort study
Aragon-Gawinska K, Seferian AM, Daron A, Gargaun E, Vuillerot C, Cances C, Ropars J, Chouchane M, Cuppen I, Hughes I, Illingworth M, Marini-Bettolo C, Rambaud J, Taytard J, Annoussamy M, Scoto M, Gidaro T, Servais L. Neurology. 2018. 91(14), e1312-e1318. The study...
Functional assessment tools in children with Pompe disease: A pilot comparative study to identify suitable outcome measures for the standard of care
Ricci F, Brusa C, Rossi F, Rolle E, Placentino V, Berardinelli A, Pagliardini V, Porta F, Spada M, Mongini T. Eur J Paediatr Neurol 2018. 22(6),1103-1109. Progression of Pompe disease was evaluated in 8 young patients. From the results of the study, the authors...
Protocol for a phase II, monocentre, double-blind, placebo-controlled, cross-over trial to assess efficacy of pyridostigmine in patients with spinal muscular atrophy types 2-4 (SPACE trial)
Stam M, Wadman RI, Wijngaarde CA, Bartels B, Asselman FL, Otto LAM, Goedee HS, Habets LE, de Groot JF, Schoenmakers MAGC, Cuppen I, van den Berg LH, van der Pol WL. BMJ Open. 2018. 30;8(7):e019932. Protocol of the "SPACE" in wich MFM is used as an outcome measure....