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

Pompe Disease (Late-Onset) Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00731081
• Other study ID #: AGLU04107
• Status: Completed
• Phase: N/A
• First received: August 6, 2008
• Last updated: February 4, 2014
• Start date: March 2007
• Est. completion date: May 2009

Study information

• Verified date: February 2014
• Source: Sanofi
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Commission Nationale de I'Informatique et des Libertes (CNIL)
• Study type: Observational

Clinical Trial Summary

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

Recruitment information / eligibility

• Status: Completed
• Enrollment: 8
• Est. completion date: May 2009
• Est. primary completion date: May 2009
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 18 Years and older

Eligibility

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.

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Related Conditions & MeSH terms

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

Locations

Country	Name	City	State
France	Pitie-Salpetriere Hospital	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Genzyme, a Sanofi Company

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	To describe severe late onset patients with Pompe disease receiving Myozyme and follow-up according to the CETP recommendations		12 to 18 months	No

External Links

•   Myozyme Prescribing information