Phase 4
N=16
Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa
Pompe Disease (Late-Onset) · Glycogen Storage Disease Type II (GSD II) · Glycogenesis 2 Acid Maltase Deficiency
Bottom Line
View on ClinicalTrials.gov: NCT01288027 ↗Enrolled (actual)
16
Serious AEs
6.3%
Results posted
Dec 2014
Primary outcome: Primary: Change From Baseline in Tissue Glycogen Content in Quadriceps Muscle Biopsy Samples at Week 26 — 5.3; -1.6 percent area occupied by glycogen — p=0.1860
Study Design & Population
- Study type
- Interventional
- Phase
- Phase 4
- Interventions
- Alglucosidase Alfa (Biological)
- Age
- Adult, Older Adult · 18+ yrs
- Sex
- All
- Sponsor
- Genzyme, a Sanofi Company
- Primary completion
- Dec 2013
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Change From Baseline in Tissue Glycogen Content in Quadriceps Muscle Biopsy Samples at Week 26 |
5.3; -1.6 | 0.1860 |
| SECONDARY Glycogen Distribution |
— | — |
| SECONDARY Muscle Fiber Morphology |
— | — |
| SECONDARY Lysosomal Inclusions |
— | — |
| SECONDARY Percent Change From Baseline in Muscle Involvement Using Mercuri Scoring at Week 26 |
2.6; 0.0 | — |
| SECONDARY Percent Change From Baseline in Degree of Fatty Infiltration Using 3-Point 3-Dimensional (3D) Dixon at Week 26 |
2.0 | — |
| SECONDARY Percent Change From Baseline in Disease Activity Using T2 Magnetic Resonance Imaging (MRI) at Week 26 |
8.1; 7.2 | — |
Summary
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).
Eligibility Criteria
Inclusion Criteria
- The participant has confirmed acid alpha-glucosidase (GAA) enzyme deficiency from any tissue source and/or confirmed GAA gene mutations and without known cardiac hypertrophy
- The participant is able to ambulate a distance without stopping and without an assistive device. Use of assistive device for community ambulation is appropriate
- The participant has a certain forced vital capacity (FVC) in upright position
- The participant, if female and of childbearing potential, must have a negative pregnancy test (urine beta-human chorionic gonadotropin [beta-hCG]) at baseline
Exclusion Criteria
- The participant has had previous treatment with ERT
- The participant is wheelchair dependent
- The participant requires invasive-ventilation (non-invasive ventilation is allowed)
- The participant is participating in another clinical study using investigational treatment
- The participant cannot submit to magnetic resonance imaging (MRI) examination because of a formal contraindication such as a pacemaker, implanted ferromagnetic metals, etc
- The participant, in the opinion of the Investigator, is unable to adhere to the requirements of the study
Data sourced from ClinicalTrials.gov (NCT01288027). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.