New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy.

Muscle & Nerve
Corrado AngeliniItalian Group on GSDII

Abstract

The clinical course of late-onset Pompe disease is heterogeneous, and new clinical outcome measures are needed to evaluate enzyme replacement therapy (ERT). We correlated the 6-Minute Walk Test (6MWT), Walton and Gardner-Medwin (WGM) score, and GSGC (Gait, Stairs, Gower, Chair) scores in 40 patients. At baseline, the GSGC score correlated with both WGM (P < 0.001, n = 33) and 6MWT (P < 0.001, n = 26). After 1 year of ERT, we observed a significant change in gait, stairs and chair performance on the GSGC scale. The 6MWT significantly increased from 319 to 371 meters in 32 patients, and the WGM score was reduced. GSGC is a group of functional tests that requires only a few minutes to perform, therefore, this score might be a good indicator to be used in future studies.

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Citations

Aug 21, 2013·Current Treatment Options in Neurology·Erika F Augustine, Jonathan W Mink
Oct 11, 2013·Orphanet Journal of Rare Diseases·Simone SampaoloGiuseppe Di Iorio
Oct 15, 2013·Orphanet Journal of Rare Diseases·Robin Lachmann, Benedikt Schoser
Oct 15, 2013·Muscle & Nerve·Farah SeedatMichael R Rose
Oct 15, 2013·Muscle & Nerve·Farah SeedatMichael R Rose
Sep 16, 2015·Molecular Genetics and Metabolism·Paul T McIntoshPriya Kishnani
Nov 5, 2014·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·M BoentertP Young
Apr 10, 2013·Molecular Genetics and Metabolism·Marco SpadaTiziana Mongini
Jul 6, 2014·Biochimica Et Biophysica Acta·Corrado Angelini
Jan 1, 2016·Muscle & Nerve·Ilse DirksImelda J M De Groot
Dec 23, 2015·Arquivos de neuro-psiquiatria·Juan Clinton Llerena JuniorLineu Cesar Werneck
Sep 3, 2013·Therapeutic Advances in Neurological Disorders·Corrado AngeliniClaudio Semplicini
Jul 27, 2018·Current Opinion in Neurology·Emanuele RastelliBenedikt Schoser
Feb 6, 2019·Journal of Neurology·Emanuele SpinaFiore Manganelli
Dec 8, 2019·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Giovanni IolasconUNKNOWN AIM (Italian Association of Myology), AIPO (Italian Association of Hospital Pulmonologists), SIRN (Italian Society of Neuror
Sep 18, 2020·Expert Review of Neurotherapeutics·Corrado AngeliniSabrina Sacconi
May 10, 2017·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·A T van der PloegUNKNOWN European Pompe Consortium
Nov 16, 2016·Scientific Reports·Maria Stella ValleMatteo Cioni
Mar 13, 2020·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Paolo RuggeriAntonio Toscano
Jul 13, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Antonietta TaralloGiancarlo Parenti
Jun 10, 2020·Journal of Inherited Metabolic Disease·Claudio SempliciniUNKNOWN French Pompe Study Group
May 7, 2020·Frontiers in Neurology·Federica MontagneseBenedikt Schoser

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