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

This study has been completed.
Information provided by (Responsible Party):
Sanofi ( Genzyme, a Sanofi Company ) Identifier:
First received: August 6, 2008
Last updated: February 4, 2014
Last verified: February 2014
To describe severe late onset patients with pompe disease receiving Myozyme®

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

Study Type: Observational
Study Design: 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

Resource links provided by NLM:

Further study details as provided by Sanofi ( Genzyme, a Sanofi Company ):

Primary Outcome Measures:
  • 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

Enrollment: 8
Study Start Date: March 2007
Study Completion Date: May 2009
Primary Completion Date: May 2009 (Final data collection date for primary outcome measure)

Ages Eligible for Study:   18 Years and older   (Adult, Senior)
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.
  Contacts and Locations
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Please refer to this study by its identifier: NCT00731081

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

Additional Information:
Responsible Party: Genzyme, a Sanofi Company Identifier: NCT00731081     History of Changes
Other Study ID Numbers: AGLU04107
Study First Received: August 6, 2008
Last Updated: February 4, 2014

Additional relevant MeSH terms:
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 processed this record on May 25, 2017