Safety and Effectiveness Study of rhGAA in Patients With Advanced Late-Onset Pompe Disease Receiving Respiratory Support

This study has been completed.
Information provided by:
Sanofi Identifier:
First received: December 22, 2005
Last updated: February 4, 2014
Last verified: February 2014
Pompe disease (also known as glycogen storage disease Type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA is used by the body's cells to break down glycogen (a stored form of sugar) within specialized structures called lysosomes. In patients with Pompe disease, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. The overall objective is to evaluate the safety and efficacy of rhGAA in patients with advanced Late-onset Pompe disease.

Condition Intervention Phase
Pompe Disease (Late-onset)
Glycogen Storage Disease Type II (GSD-II)
Acid Maltase Deficiency Disease
Glycogenosis 2
Biological: Myozyme
Phase 3

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: Prospective, Open-label, Single-arm, Exploratory Study of the Effect and Safety of rhGAA in Patients With Advanced Late-onset Pompe Disease Who Are Receiving Respiratory Support

Resource links provided by NLM:

Further study details as provided by Sanofi:

Primary Outcome Measures:
  • Treatment effect on muscle strength and functional status. [ Time Frame: six months and one year ] [ Designated as safety issue: No ]
  • Treatment effect on pulmonary function and/or ventilation conditions. [ Time Frame: six months and one year ] [ Designated as safety issue: No ]
  • Treatment effect on cardiomyopathy noted at inclusion [ Time Frame: six months and one year ] [ Designated as safety issue: No ]
  • Treatment effect on fatigue. [ Time Frame: six months and one year ] [ Designated as safety issue: No ]
  • Treatment effect on quality of life. [ Time Frame: six months and one year ] [ Designated as safety issue: No ]
  • Treatment effect on muscular atrophy. [ Time Frame: six months and one year ] [ Designated as safety issue: No ]
  • Overall patient satisfaction with treatment (visual analog scale). [ Time Frame: six months and one year ] [ Designated as safety issue: No ]
  • Pharmacodynamics assessment. [ Time Frame: six months and one year ] [ Designated as safety issue: No ]

Enrollment: 5
Study Start Date: December 2005
Study Completion Date: June 2007
Primary Completion Date: March 2007 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: 1 Biological: Myozyme
20 mg/kg qow
Other Name: alglucosidase alfa


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

Inclusion Criteria:

  • male or female aged greater than or equal to 18 years
  • patient's legally authorized guardian(s) must provide signed, informed consent prior to initiation of study; patient's signature required if patient understands informed consent
  • patient must have a documented deficit in acid alpha-glucosidase (GAA) activity , corresponding to the diagnosis of Pompe disease confirmed by documented genotyping
  • patient presents with advanced documented symptoms of the disease defined as follows: patient is in a wheel chair and presents diaphragmatic dysfunction and requires invasive ventilation or non invasive ventilation (12 or more hours daily)

Exclusion Criteria:

  • patient has received enzyme replacement therapy with GAA from any source
  • patient has taken an experimental drug in the 30 days prior to study enrollment, or is currently included in another study involving clinical evaluations; If this is the case, inclusion of the patient in the present study will be subject to prior agreement by Genzyme
  • major congenital anomaly
  • clinically important organic disease (except for symptoms related to Pompe disease) or any other medical condition, serious intercurrent illness, or other extenuating circumstance that, in the physician's opinion should preclude the patient's participation in the study or may reduce survival
  • pregnancy and breastfeeding (women of childbearing age must use a medically accepted method of contraception throughout the entire duration of the trial. Male patients must use a medically accepted birth control method throughout the entire duration 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: NCT00268944

Hopital Raymond Poincare
Garches, France, 92380
Sponsors and Collaborators
Genzyme, a Sanofi Company
Study Director: Medical Monitor Genzyme, a Sanofi Company
  More Information

Responsible Party: Medical Monitor, Genzyme Corporation Identifier: NCT00268944     History of Changes
Other Study ID Numbers: AGLU03105 
Study First Received: December 22, 2005
Last Updated: February 4, 2014
Health Authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)

Keywords provided by Sanofi:
Glycogen Storage Disease Type II
Pompe Disease

Additional relevant MeSH terms:
Glycogen Storage Disease
Glycogen Storage Disease Type II
Deficiency Diseases
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
Nutrition Disorders processed this record on May 26, 2016