Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa
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ClinicalTrials.gov Identifier: NCT01288027 |
Recruitment Status :
Completed
First Posted : February 2, 2011
Results First Posted : December 2, 2014
Last Update Posted : December 19, 2014
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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).
Condition or disease | Intervention/treatment | Phase |
---|---|---|
Pompe Disease (Late-Onset) Glycogen Storage Disease Type II (GSD II) Glycogenesis 2 Acid Maltase Deficiency | Biological: Alglucosidase Alfa | Phase 4 |
Study Type : | Interventional (Clinical Trial) |
Actual Enrollment : | 16 participants |
Allocation: | Non-Randomized |
Intervention Model: | Single Group Assignment |
Masking: | None (Open Label) |
Primary Purpose: | Treatment |
Official Title: | A Phase 4 Prospective Exploratory Muscle Biopsy, Biomarker, and Imaging Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa |
Study Start Date : | June 2011 |
Actual Primary Completion Date : | December 2013 |
Actual Study Completion Date : | December 2013 |

Arm | Intervention/treatment |
---|---|
Experimental: Alglucosidase Alfa |
Biological: Alglucosidase Alfa
Alglucosidase alfa intravenous infusion 20 milligram per kilogram (mg/kg) every other week for 24 weeks.
Other Names:
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- Change From Baseline in Tissue Glycogen Content in Quadriceps Muscle Biopsy Samples at Week 26 [ Time Frame: Baseline, Week 26 ]Tissue glycogen content was measured by quadriceps biopsies as 'percent area of tissue occupied by glycogen'.
- 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 [ Time Frame: Baseline, 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.
- Percent Change From Baseline in Degree of Fatty Infiltration Using 3-Point 3-Dimensional (3D) Dixon at Week 26 [ Time Frame: Baseline, Week 26 ]Degree of Fatty Infiltration was assessed by 3-point 3D Dixon acquisition using skeletal muscle MRI in a subset of participants.
- Percent Change From Baseline in Disease Activity Using T2 Magnetic Resonance Imaging (MRI) at Week 26 [ Time Frame: Baseline, 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.

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Ages Eligible for Study: | 18 Years and older (Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
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

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01288027
United States, California | |
Orange, California, United States | |
United States, Florida | |
Gainesville, Florida, United States | |
United States, Kansas | |
Kansas City, Kansas, United States | |
United States, Missouri | |
St. Louis, Missouri, United States | |
United States, New York | |
New York, New York, United States | |
United States, North Carolina | |
Durham, North Carolina, United States | |
United States, Ohio | |
Colombus, Ohio, United States | |
United States, Pennsylvania | |
Heshey, Pennsylvania, United States | |
United States, Virginia | |
Fairfax, Virginia, United States | |
Germany | |
Mainz, Germany | |
Munster, Germany | |
München, Germany | |
Netherlands | |
Rotterdam, Netherlands | |
United Kingdom | |
Newcastle upon Tyne, United Kingdom | |
Salford, United Kingdom |
Study Director: | Medical Monitor | Genzyme, a Sanofi Company |
Responsible Party: | Genzyme, a Sanofi Company |
ClinicalTrials.gov Identifier: | NCT01288027 |
Other Study ID Numbers: |
AGLU07310 2010-020611-36 ( EudraCT Number ) MSC12823 ( Other Identifier: Sanofi ) |
First Posted: | February 2, 2011 Key Record Dates |
Results First Posted: | December 2, 2014 |
Last Update Posted: | December 19, 2014 |
Last Verified: | December 2014 |
Glycogen Storage Disease Type II Glycogen Storage Disease Lysosomal Storage Diseases, Nervous System Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases |
Nervous System Diseases Metabolism, Inborn Errors Genetic Diseases, Inborn Carbohydrate Metabolism, Inborn Errors Lysosomal Storage Diseases Metabolic Diseases |