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

NCT00731081 | Completed

• 1 other identifier: AGLU04107
• Study Type: observational
• Target: 8
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

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

Outcome Measures

Primary Outcomes (1)

• To describe severe late onset patients with Pompe disease receiving Myozyme and follow-up according to the CETP recommendations

  12 to 18 months

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with severe late onset of Pompe disease with respiratory deficiency and treated by Myozyme

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Genzyme, a Sanofi Company: lead

Study Sites (1)

Pitie-Salpetriere Hospital

Paris, France

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

urine and plasma oligosaccharides

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Condition Hierarchy (Ancestors)

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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Medical Monitor

  Genzyme, a Sanofi Company

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 6, 2008
• First Posted: August 8, 2008
• Study Start: March 1, 2007
• Primary Completion: May 1, 2009
• Study Completion: May 1, 2009
• Last Updated: February 6, 2014

Record last verified: 2014-02

Locations

FR (1)