Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study
Figueroa-Bonaparte S, Llauger J, Segovia S, Belmonte I, Pedrosa I, Montiel E, Montesinos P, Sánchez-González J, Alonso-Jiménez A, Gallardo E, Illa I, Díaz-Manera J ; Spanish Pompe group.
Sci Rep. 2018. 18;8(1):10898.
In this study, 32 Late onset Pompe disease patients (22 symptomatic and 10 asymptomatic) underwent muscle MRI using 3-point Dixon at inclusion and after one year, and were evaluated with several
motor function tests, among them the MFM-20, and patient-reported outcome measures.
Authors concluded that qMRI is a very efficient tool for demonstrating the muscular condition of Pompe patients from the morphological point of view, and to monitor symptomatic and asymptomatic
patients.
Articles in scientific journals
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....
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...