INTRODUCTION: The clinical course of late-onset Pompe disease is heterogeneous, and new clinical outcome measures are needed to evaluate enzyme replacement therapy (ERT). METHODS: We correlated the 6-Minute Walk Test (6MWT), Walton and Gardner-Medwin (WGM) score, and GSGC (Gait, Stairs, Gower, Chair) scores in 40 patients. RESULTS: 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. CONCLUSIONS: 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.
INTRODUCTION: The clinical course of late-onset Pompe disease is heterogeneous, and new clinical outcome measures are needed to evaluate enzyme replacement therapy (ERT). METHODS: We correlated the 6-Minute Walk Test (6MWT), Walton and Gardner-Medwin (WGM) score, and GSGC (Gait, Stairs, Gower, Chair) scores in 40 patients. RESULTS: 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. CONCLUSIONS: 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.
Authors: Harrison N Jones; Maragatha Kuchibhatla; Kelly D Crisp; Lisa D Hobson Webb; Laura Case; Milisa T Batten; Jill A Marcus; Richard M Kravitz; Priya S Kishnani Journal: Mol Genet Metab Date: 2019-05-08 Impact factor: 4.797
Authors: Benedikt Schoser; Andrew Stewart; Steve Kanters; Alaa Hamed; Jeroen Jansen; Keith Chan; Mohammad Karamouzian; Antonio Toscano Journal: J Neurol Date: 2016-07-02 Impact factor: 4.849