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

Sponsor
Genzyme, a Sanofi Company (Industry)
Overall Status
Completed
CT.gov ID
NCT00731081
Collaborator
(none)
8
Enrollment
1
Location
26
Duration (Months)
0.3
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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

Condition or Disease Intervention/Treatment Phase

    Study Design

    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 :
    Mar 1, 2007
    Actual Primary Completion Date :
    May 1, 2009
    Actual Study Completion Date :
    May 1, 2009

    Outcome Measures

    Primary Outcome Measures

    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

    Criteria

    Ages Eligible for Study:
    18 Years and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    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

    Locations

    Site City State Country Postal Code
    1 Pitie-Salpetriere Hospital Paris France

    Sponsors and Collaborators

    • Genzyme, a Sanofi Company

    Investigators

    • Study Director: Medical Monitor, Genzyme, a Sanofi Company

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Genzyme, a Sanofi Company
    ClinicalTrials.gov Identifier:
    NCT00731081
    Other Study ID Numbers:
    • AGLU04107
    First Posted:
    Aug 8, 2008
    Last Update Posted:
    Feb 6, 2014
    Last Verified:
    Feb 1, 2014
    Additional relevant MeSH terms:
    Glycogen Storage Disease Type II
    Glycogen Storage Disease

    Study Results

    No Results Posted as of Feb 6, 2014