Skip to main content
OpenTrials
Completed

NCT Number: NCT00731081

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

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

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Pompe Disease (Late-onset) Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Glycogen Storage Disease Glycogen Storage Disease Type II Glycogen Storage Disease Type II (GSD II) Glycogenesis 2 Acid Maltase Deficiency Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Pitie-Salpetriere Hospital

Paris, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  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

Sponsors and collaborators

Lead sponsor

Genzyme, a Sanofi Company

Industry

Registry information

Official study title

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

Important dates

Study start
2007
Primary completion
2009
Study completion
2009
First posted
Aug 8, 2008
Registry last updated
Feb 6, 2014

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.