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

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00731081

Enrollment

Registered

2008-08-08

Start date

2007-03-31

Completion date

2009-05-31

Last updated

2014-02-06

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

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

Brief summary

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

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

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.

Design outcomes

Primary

Measure	Time frame
To describe severe late onset patients with Pompe disease receiving Myozyme and follow-up according to the CETP recommendations	12 to 18 months

Countries

France

Outcome results