acid alfa glucosidase deficiency Pompe Disease
Conditions
Interventions
biweekly intravenous injections with neoGAA or alfa glucosidase, in a dose of
20 mg/kg.
After 49 weeks all patients will receive neoGAA 20 mg/kg for the remaining
period of the study.
Sponsors
Sanofi-aventis
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
Inclusion criteria: -The patient has confirmed GAA enzyme deficiency from any tissue source and/or 2 confirmed GAA gene mutations -The patient and/or their parent/legal guardian is willing and able to provide signed informedconsent, and the patient, if
Exclusion criteria
Exclusion criteria: -The patient is younger than 3 years of age.;-The patient has known Pompe specific cardiac hypertrophy.;-The patient is wheelchair dependent.;-The patient is not able to ambulate 40 meters (approximately 130 feet) without topping and without an assistive device.;-The patient requires invasive-ventilation (non-invasive ventilation is allowed).;-The patient is not able to successfully perform repeated forced vital capacity (FVC) measurements in upright position of >=40% predicted and
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Change in FVC % predicted in the upright position from baseline to 12 months. | — |
Secondary
| Measure | Time frame |
|---|---|
| Change in the following parameters from baseline to 12 months: Efficacy: • MIP and MEP (% predicted) • 6MWT distance walked • Motor function (QMFT) • Muscle strength (HHD) • Health-related quality of life (SF-12) | — |
Countries
Netherlands
Outcome results
None listed