Modalités de l’utilisation de l’alpha-glucosidase recombinante humaine (Myosine TM) et du suivi des patients adultes
Annane D, Caillaud C, Laforêt P, Maire I, Nicolino M, Orlikovski D.
Recommandations du Comité d’Evaluation du traitement de la maladie de Pompe 2008.
In adult Pompe disease, it is recommended to assess patients by MFM initially and every 6 months or annually by the reference center for the patient in the monitoring of the Myosine protocol. (in French).
Keywords : Pompe disease, Myosyme, recommendations, protocol, clinical trials
Articles dans les revues scientifiques
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....
Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study
Chabanon A, Seferian AM, Daron A, Péréon Y, Cances C, Vuillerot C, De Waele L, Cuisset JM, Laugel V, Schara U, Gidaro T, Gilabert S, Hogrel JY, Baudin PY, Carlier P, Fournier E, Lowes LP, Hellbach N, Seabrook T, Toledano E, Annoussamy M, Servais L; NatHis-SMA study...
Mathematical Disease Progression Modeling in Type 2/3 Spinal Muscular Atrophy
Jacqmin P, Gieschke R, Delor I, Snoeck E, Vianna E, Vuillerot C, Sanwald Ducray P.Muscle Nerve. 2018. 58(4):528-535. Presentation of a mathematical model that empirically describes the development and deterioration of muscle function assessed by the 3 domains of MFM...
Is Going Beyond Rasch Analysis Necessary to Assess the Construct Validity of a Motor Function Scale?
Guillot T, Roche S, Rippert P, Hamroun D, Iwaz J, Ecochard R, Vuillerot C; the MFM Study Group. Arch Phys Med Rehabil. 2018. 99(9), 1776-1782.e9. Comparison of the fit quality of the confirmatory factor analysis (CFA) and the Rasch models on MFM item scores in...
Functional outcome measures for infantile Charcot-Marie-Tooth disease: a systematic review
Mandarakas MR, Rose KJ, Sanmaneechai O, Menezes MP, Refshauge KM, Burns JJ Peripher Nerv Syst. 2018. 23(2), 99-107. Systematic review of the outcome measures that can be used in children with Charcot-Marie-Tooth (CMT) aged 0 to 3 years.Properties of MFM-20 in this...
Timed function tests, motor function measure, and quantitative thigh muscle MRI in ambulant children with Duchenne muscular dystrophy: A cross-sectional analysis
Schmidt S, Hafner P, Klein A, Rubino-Nacht D, Gocheva V, Schroeder J, Naduvilekoot Devasia A, Zuesli S, Bernert G, Laugel V, Bloetzer C, Steinlin M, Capone A, Gloor M, Tobler P, Haas T, Bieri O, Zumbrunn T, Fischer D, Bonati U Neuromuscul Disord. 2018....