Citation
van der Ploeg, Ans, et al. "Prospective Exploratory Muscle Biopsy, Imaging, and Functional Assessment in Patients With Late-onset Pompe Disease Treated With Alglucosidase Alfa: the EMBASSY Study." Molecular Genetics and Metabolism, vol. 119, no. 1-2, 2016, pp. 115-23.
van der Ploeg A, Carlier PG, Carlier RY, et al. Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study. Mol Genet Metab. 2016;119(1-2):115-23.
van der Ploeg, A., Carlier, P. G., Carlier, R. Y., Kissel, J. T., Schoser, B., Wenninger, S., Pestronk, A., Barohn, R. J., Dimachkie, M. M., Goker-Alpan, O., Mozaffar, T., Pena, L. D., Simmons, Z., Straub, V., Guglieri, M., Young, P., Boentert, M., Baudin, P. Y., Wens, S., ... Thurberg, B. L. (2016). Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study. Molecular Genetics and Metabolism, 119(1-2), 115-23. https://doi.org/10.1016/j.ymgme.2016.05.013
van der Ploeg A, et al. Prospective Exploratory Muscle Biopsy, Imaging, and Functional Assessment in Patients With Late-onset Pompe Disease Treated With Alglucosidase Alfa: the EMBASSY Study. Mol Genet Metab. 2016;119(1-2):115-23. PubMed PMID: 27473031.
TY - JOUR
T1 - Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study.
AU - van der Ploeg,Ans,
AU - Carlier,Pierre G,
AU - Carlier,Robert-Yves,
AU - Kissel,John T,
AU - Schoser,Benedikt,
AU - Wenninger,Stephan,
AU - Pestronk,Alan,
AU - Barohn,Richard J,
AU - Dimachkie,Mazen M,
AU - Goker-Alpan,Ozlem,
AU - Mozaffar,Tahseen,
AU - Pena,Loren D M,
AU - Simmons,Zachary,
AU - Straub,Volker,
AU - Guglieri,Michela,
AU - Young,Peter,
AU - Boentert,Matthias,
AU - Baudin,Pierre-Yves,
AU - Wens,Stephan,
AU - Shafi,Raheel,
AU - Bjartmar,Carl,
AU - Thurberg,Beth L,
Y1 - 2016/05/19/
PY - 2016/03/01/received
PY - 2016/05/16/revised
PY - 2016/05/17/accepted
PY - 2016/7/31/entrez
PY - 2016/7/31/pubmed
PY - 2017/12/8/medline
KW - Alglucosidase alfa
KW - Enzyme replacement therapy
KW - Functional effects
KW - Glycogen
KW - Histopathology
KW - Late-onset Pompe disease
KW - Muscle pathology
KW - Pompe disease
SP - 115
EP - 23
JF - Molecular genetics and metabolism
JO - Mol Genet Metab
VL - 119
IS - 1-2
N2 - BACKGROUND: Late-onset Pompe disease is characterized by progressive skeletal myopathy followed by respiratory muscle weakness, typically leading to loss of ambulation and respiratory failure. In this population, enzyme replacement therapy (ERT) with alglucosidase alfa has been shown to stabilize respiratory function and improve mobility and muscle strength. Muscle pathology and glycogen clearance from skeletal muscle in treatment-naïve adults after ERT have not been extensively examined. METHODS: This exploratory, open-label, multicenter study evaluated glycogen clearance in muscle tissue samples collected pre- and post- alglucosidase alfa treatment in treatment-naïve adults with late-onset Pompe disease. The primary endpoint was the quantitative reduction in percent tissue area occupied by glycogen in muscle biopsies from baseline to 6months. Secondary endpoints included qualitative histologic assessment of tissue glycogen distribution, secondary pathology changes, assessment of magnetic resonance images (MRIs) for intact muscle and fatty replacement, and functional assessments. RESULTS: Sixteen patients completed the study. After 6months of ERT, the percent tissue area occupied by glycogen in quadriceps and deltoid muscles decreased in 10 and 8 patients, respectively. No changes were detected on MRI from baseline to 6months. A majority of patients showed improvements on functional assessments after 6months of treatment. All treatment-related adverse events were mild or moderate. CONCLUSIONS: This exploratory study provides novel insights into the histopathologic effects of ERT in late-onset Pompe disease patients. Ultrastructural examination of muscle biopsies demonstrated reduced lysosomal glycogen after ERT. Findings are consistent with stabilization of disease by ERT in treatment-naïve patients with late-onset Pompe disease.
SN - 1096-7206
UR - https://www.unboundmedicine.com/medline/citation/27473031/Prospective_exploratory_muscle_biopsy_imaging_and_functional_assessment_in_patients_with_late_onset_Pompe_disease_treated_with_alglucosidase_alfa:_The_EMBASSY_Study_
L2 - https://linkinghub.elsevier.com/retrieve/pii/S1096-7192(16)30088-9
DB - PRIME
DP - Unbound Medicine
ER -