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Study About the Evolution of Severe Late Onset Pompe Disease Patient With Pulmonary Dysfunction and Receiving Myozyme®

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: NCT00731081
Recruitment Status : Completed
First Posted : August 8, 2008
Last Update Posted : February 6, 2014
Information provided by (Responsible Party):
Sanofi ( Genzyme, a Sanofi Company )

Brief Summary:
To describe severe late onset patients with pompe disease receiving Myozyme®

Condition or disease
Pompe Disease (Late-Onset) Glycogen Storage Disease Type II (GSD II) Glycogenesis 2 Acid Maltase Deficiency

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Study Type : Observational
Actual Enrollment : 8 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Observational Study About the Evolution of Severe Late Onset Pompe Disease Patient With Pulmonary Dysfunction and Receiving Myozyme
Study Start Date : March 2007
Actual Primary Completion Date : May 2009
Actual Study Completion Date : May 2009

Primary Outcome Measures :
  1. To describe severe late onset patients with Pompe disease receiving Myozyme and follow-up according to the CETP recommendations [ Time Frame: 12 to 18 months ]

Biospecimen Retention:   Samples Without DNA
urine and plasma oligosaccharides

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.

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with severe late onset of Pompe disease with respiratory deficiency and treated by Myozyme

Inclusion Criteria:

  • Male or Female ≥ 18 years of age;
  • The patient and/or patient's legal representative has given their informed consent in writing before any study procedure is initiated;
  • Pompe disease confirmed by documented deficit in endogenous acid alpha-glucosidase (GAA) activity;
  • A severe form of the disease as defined as follows: a. Moderate to severe limb girdle muscle weakness requiring help for walking around (sticks, crutches, walking frame or wheelchair); and b. Symptoms of diaphragmatic dysfunction defined by at least 2 out of the 3 following criteria: orthopnea, vital capacity < 50%, paradoxical respiration detected in measurement of transdiaphragmatic pressure; and c. Use of invasive ventilation (defined by need for tracheotomy) or noninvasive ventilation (defined by utilization of assisted ventilation using a nasal or facial mask)day and night prescribed ≥ 12 hours/day;
  • Treated for ≥6 months with Myozyme;
  • Followed-up in a reference center according to the CETP recommendations.

Exclusion Criteria:

  • The patient presents with a major congenital anomaly;
  • The patient presents with a clinically important organic disease (except for symptoms related to Pompe disease) such as cardiovascular, hepatic, pulmonary, neurological or renal disease or any other medical condition, serious disease or particular circumstances that in the investigator's opinion, should preclude the patient's participation.

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): NCT00731081

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Pitie-Salpetriere Hospital
Paris, France
Sponsors and Collaborators
Genzyme, a Sanofi Company
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Study Director: Medical Monitor Genzyme, a Sanofi Company

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Responsible Party: Genzyme, a Sanofi Company Identifier: NCT00731081    
Other Study ID Numbers: AGLU04107
First Posted: August 8, 2008    Key Record Dates
Last Update Posted: February 6, 2014
Last Verified: February 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