This is an open-label, multicenter study of participants with late-onset Pompe disease naive to treatment with enzyme replacement therapy (ERT). The primary objective of this study is to evaluate glycogen clearance in muscle tissue samples collected pre and post alglucosidase alfa treatment in participants with Late-Onset Pompe disease. The secondary objectives are to characterize the disease burden in participants with late-onset Pompe disease and explore imaging, histologic, and functional assessments in these participants and to explore potential plasma or urine biomarkers relative to late-onset Pompe disease and participant's response to treatment with alglucosidase alfa (Myozyme®/Lumizyme®/GZ419829).
Study Type
INTERVENTIONAL
Allocation
NON_RANDOMIZED
Purpose
TREATMENT
Masking
NONE
Enrollment
16
Alglucosidase alfa intravenous infusion 20 milligram per kilogram (mg/kg) every other week for 24 weeks.
Unnamed facility
Orange, California, United States
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Gainesville, Florida, United States
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Kansas City, Kansas, United States
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St Louis, Missouri, United States
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New York, New York, United States
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Durham, North Carolina, United States
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Colombus, Ohio, United States
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Heshey, Pennsylvania, United States
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Fairfax, Virginia, United States
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Mainz, Germany
...and 5 more locations
Change From Baseline in Tissue Glycogen Content in Quadriceps Muscle Biopsy Samples at Week 26
Tissue glycogen content was measured by quadriceps biopsies as 'percent area of tissue occupied by glycogen'.
Time frame: Baseline, Week 26
Glycogen Distribution
Time frame: Baseline, Week 26
Muscle Fiber Morphology
Time frame: Baseline, Week 26
Lysosomal Inclusions
Time frame: Baseline, Week 26
Percent Change From Baseline in Muscle Involvement Using Mercuri Scoring at Week 26
Muscle involvement was assessed by T1-weighted magnetic resonance imaging (MRI). T1-weighted MRI data was analyzed using the Mercuri scoring in both legs (Total score = 1-4; where 1=Normal appearance, 2=Mild involvement, 3=Moderate involvement, and 4=Severe involvement). For each participants, the average for each the upper (thigh) and lower leg was computed for Mercuri grading.
Time frame: Baseline, Week 26
Percent Change From Baseline in Degree of Fatty Infiltration Using 3-Point 3-Dimensional (3D) Dixon at Week 26
Degree of Fatty Infiltration was assessed by 3-point 3D Dixon acquisition using skeletal muscle MRI in a subset of participants.
Time frame: Baseline, Week 26
Percent Change From Baseline in Disease Activity Using T2 Magnetic Resonance Imaging (MRI) at Week 26
Disease activity (inflammation and/or water content within muscles) was quantitatively assessed by T2 MRI values in a subset of participants. A T2 MRI value of greater than (\>) 39 millisecond (ms) was defined as abnormal. T2 estimation normally requires an additional acquisition for computing the B1 spatial deviation however, can still be estimated if this acquisition is missing.
Time frame: Baseline, Week 26
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