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

This study has been completed.
Information provided by (Responsible Party):
Sanofi ( Genzyme, a Sanofi Company ) Identifier:
First received: January 27, 2011
Last updated: August 20, 2014
Last verified: August 2014

This is an open-label, multicenter study of patients with late-onset Pompe disease naïve to treatment with enzyme replacement therapy (ERT). The primary purpose of this study is to evaluate glycogen clearance in muscle tissue samples collected pre and post alglucosidase alfa treatment in patients with Late-Onset Pompe disease.

Condition Intervention 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
Study Design: Allocation: Non-Randomized
Endpoint Classification: Safety/Efficacy Study
Intervention Model: Single Group Assignment
Masking: 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

Resource links provided by NLM:

Further study details as provided by Sanofi:

Primary Outcome Measures:
  • Percent reduction from baseline in tissue glycogen content in muscle biopsy samples. [ Time Frame: Week 26 ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Glycogen distribution [ Time Frame: Baseline and Week 26 ] [ Designated as safety issue: No ]
  • Muscle fiber morphology [ Time Frame: Baseline and Week 26 ] [ Designated as safety issue: No ]
  • Lysosomal inclusions [ Time Frame: Baseline and Week 26 ] [ Designated as safety issue: No ]
  • change from baseline in intact muscle and fatty replacement [ Time Frame: Week 26 ] [ Designated as safety issue: No ]

Enrollment: 16
Study Start Date: June 2011
Study Completion Date: December 2013
Primary Completion Date: December 2013 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: alglucosidase alfa
Intravenous (IV) infusion of 20mg/kg every other week (qow) for 24 weeks.
Biological: alglucosidase alfa
Intravenous (IV) infusion of 20mg/kg every other week (qow)for 24 weeks


Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • The patient has confirmed acid α-glucosidase [GAA] enzyme deficiency from any tissue source and/or confirmed GAA gene mutations and without known cardiac hypertrophy.
  • The patient is able to ambulate a distance without stopping and without an assistive device. Use of assistive device for community ambulation is appropriate.
  • The patient has a certain forced vital capacity (FVC) in upright position.
  • The patient, if female and of childbearing potential, must have a negative pregnancy test (urine beta-human chorionic gonadotropin [β-hCG]) at baseline.

Exclusion Criteria:

  • The patient has had previous treatment with enzyme replacement therapy (ERT).
  • The patient is wheelchair dependent.
  • The patient requires invasive-ventilation (non-invasive ventilation is allowed).
  • The patient is participating in another clinical study using investigational treatment.
  • The patient cannot submit to magnetic resonance imaging (MRI) examination because of a formal contraindication such as a pacemaker, implanted ferromagnetic metals, etc.
  • The patient, in the opinion of the Investigator, is unable to adhere to the requirements of the study.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: 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
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
Study Director: Medical Monitor Genzyme, a Sanofi Company
  More Information

No publications provided

Responsible Party: Sanofi ( Genzyme, a Sanofi Company ) Identifier: NCT01288027     History of Changes
Other Study ID Numbers: AGLU07310, 2010-020611-36
Study First Received: January 27, 2011
Last Updated: August 20, 2014
Health Authority: United States: Food and Drug Administration
European Union: European Medicines Agency

Additional relevant MeSH terms:
Glycogen Storage Disease
Glycogen Storage Disease Type II
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Carbohydrate Metabolism, Inborn Errors
Central Nervous System Diseases
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Metabolic Diseases
Metabolism, Inborn Errors
Nervous System Diseases processed this record on November 25, 2014