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Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01288027
Recruitment Status : Completed
First Posted : February 2, 2011
Results First Posted : December 2, 2014
Last Update Posted : December 19, 2014
Information provided by (Responsible Party):
Sanofi ( Genzyme, a Sanofi Company )

Brief 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).

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

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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:
  • GZ419829
  • Myozyme®
  • Lumizyme®

Primary Outcome Measures :
  1. 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'.

Secondary Outcome Measures :
  1. Glycogen Distribution [ Time Frame: Baseline, Week 26 ]
  2. Muscle Fiber Morphology [ Time Frame: Baseline, Week 26 ]
  3. Lysosomal Inclusions [ Time Frame: Baseline, Week 26 ]
  4. 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.

  5. 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.

  6. 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.

Information from the National Library of Medicine

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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

Information from the National Library of Medicine

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 identifier (NCT number): NCT01288027

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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
Mainz, Germany
Munster, Germany
München, Germany
Rotterdam, Netherlands
United Kingdom
Newcastle upon Tyne, United Kingdom
Salford, United Kingdom
Sponsors and Collaborators
Genzyme, a Sanofi Company
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Study Director: Medical Monitor Genzyme, a Sanofi Company
Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: Genzyme, a Sanofi Company 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
Additional relevant MeSH terms:
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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