COVID-19 is an emerging, rapidly evolving situation.
Get the latest public health information from CDC:

Get the latest research information from NIH: Menu

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

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: NCT00268944
Recruitment Status : Completed
First Posted : December 23, 2005
Last Update Posted : February 5, 2014
Information provided by:

Brief Summary:
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 or disease Intervention/treatment Phase
Pompe Disease (Late-onset) Glycogen Storage Disease Type II (GSD-II) Acid Maltase Deficiency Disease Glycogenosis 2 Biological: Myozyme Phase 3

Layout table for study information
Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 5 participants
Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (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
Study Start Date : December 2005
Actual Primary Completion Date : March 2007
Actual Study Completion Date : June 2007

Arm Intervention/treatment
Experimental: 1 Biological: Myozyme
20 mg/kg qow
Other Name: alglucosidase alfa

Primary Outcome Measures :
  1. Treatment effect on muscle strength and functional status. [ Time Frame: six months and one year ]
  2. Treatment effect on pulmonary function and/or ventilation conditions. [ Time Frame: six months and one year ]
  3. Treatment effect on cardiomyopathy noted at inclusion [ Time Frame: six months and one year ]
  4. Treatment effect on fatigue. [ Time Frame: six months and one year ]
  5. Treatment effect on quality of life. [ Time Frame: six months and one year ]
  6. Treatment effect on muscular atrophy. [ Time Frame: six months and one year ]
  7. Overall patient satisfaction with treatment (visual analog scale). [ Time Frame: six months and one year ]
  8. Pharmacodynamics assessment. [ Time Frame: six months and one year ]

Information from the National Library of Medicine

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, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
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)

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): NCT00268944

Layout table for location information
Hopital Raymond Poincare
Garches, France, 92380
Sponsors and Collaborators
Genzyme, a Sanofi Company
Layout table for investigator information
Study Director: Medical Monitor Genzyme, a Sanofi Company
Layout table for additonal information
Responsible Party: Medical Monitor, Genzyme Corporation Identifier: NCT00268944    
Other Study ID Numbers: AGLU03105
First Posted: December 23, 2005    Key Record Dates
Last Update Posted: February 5, 2014
Last Verified: February 2014
Keywords provided by Sanofi:
Glycogen Storage Disease Type II
Pompe Disease
Additional relevant MeSH terms:
Layout table for MeSH terms
Glycogen Storage Disease Type II
Glycogen Storage Disease
Deficiency Diseases
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Metabolic Diseases
Nutrition Disorders
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors