Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease
Orlikowski D, Pellegrini N, Prigent H, Laforêt P, Carlier R, Carlier P, Eymard B, Lofaso F, Annane D.
Neuromuscul Disord. 2011. 21(7):477-82.
This open-label prospective exploratory study investigated the effect of 12 months of recombinant enzyme replacement therapy in 5 adult patients with severe Pompe disease.
Motor and respiratory function, quantitative muscle testing and spirometry were assessed. Concerning motor function assessed by MFM, 3 patients, wheelchair bound at baseline, improved sitting and proximal motor function and 2 patients improved in their ability to stand and transfer.
Alglucosidase alfa may stabilize or even slightly improve muscle strength and respiratory function among patients with severe Pompe disease.
Keywords: Pompe disease; Alglucosidase alfa; Enzyme replacement therapy; rhGAA
Articles dans les revues scientifiques
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...
Cross-cultural Adaptation and Multi-centric Validation of the Motor Function Measure Chinese Version (MFM-32-CN) for Patients with Neuromuscular Diseases
Huang M, Cao J, Sun J, Li W, Qin L, Li H, Zhai C, Huang W, Gui T, Zhang K, Wang J, Vuillerot C, Wang Y, Dai M. Dev Neurorehabil. 2019. doi: 10.1080/17518423.2019.1642413. Validation study of a Chinese version of the MFM-32, the MFM-32-CN. PubMed link Keywords: Chinese...
Motor Function Performance in Individuals with RYR1-Related Myopathies
Witherspoon JW, Vuillerot C, Vasavada RP, Waite MR, Shelton M, Chrismer IC, Jain MS, Meilleur KG. Muscle Nerve. 2019. 60(1),80-87. Natural history study of 34 individuals with RYR1- related myopathy (RYR1-RM) during 6 months. Motor deficits according to MFM-32 were...
X-linked myotubular myopathy: A prospective international natural history study
Annoussamy M, Lilien C, Gidaro T, Gargaun E, Chê V, Schara U, Gangfuß A, D'Amico A, Dowling JJ, Darras BT, Daron A, Hernandez A, de Lattre C, Arnal JM, Mayer M, Cuisset JM, Vuillerot C, Fontaine S1, Bellance R, Biancalana V, Buj-Bello A, Hogrel JY, Landy H, Servais L....