glycogen storage disease type II or acid maltase deficiency Pompe disease
Conditions
Interventions
neoGAA.
Sterile lyophilized powder administered by intravenous infusion following
reconstitution and dilution.
20 mg/kg bi-weekly
Sponsors
Erasmus MC, Universitair Medisch Centrum Rotterdam
Eligibility
Age
2 Years to 64 Years
Inclusion criteria
Inclusion criteria: - Age >= 5 years and == 2 years (dose regimen 20 or 40 mg/kg bi-weekly). - Confirmed diagnosis: enzyme deficiency in any tissue source / 2 confirmed pathogenic variations in the GAA gene. - Willing and able to adhere to study procedures (incl. patient and/or parent/guardian signed informed consent). - Deterioration in either pulmonary function / 6MWT / muscle strength despite current treatment regimen with alglucosidase alfa. - Disease status: - Measurable pulmonary (dys)function: (F)VC
Exclusion criteria
Exclusion criteria: - Age >50 years. - Invasive mechanical ventilation. - No remaining useful functional ability (e.g. (almost) tetraplegic), as decided by the treating physician. - Unmanageable, severe IARs on alglucosidase alfa. - Deterioration due to high levels of anti-alglucosidase alfa antibodies interfering with treatment efficacy. - Female patient of childbearing potential not protected by highly effective contraceptive method of birth control and/or who is unwilling or unable to be tested for pregnancy
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| - Muscle strength: * manual muscle testing (MMT) * hand-held dynamometry (HHD) - Muscle function: * Quick Motor Function test (QMFT) * six Minute Walk Test (6MWT) * timed tests. - Pulmonary function: * (forced) vital capacity ((F)VC) in sitting and supine positions * Maximum Inspiratory Pressure (MIP), Maximum Expiratory Pressure (MEP) - *PRO-measures*: * Rasch-build Pompe Activity scale (R-PAct) * Quality of Life (QoL; SF-36, TACQOL) * modified Borg scale * hours of ventilation per day | — |
Countries
Netherlands
Outcome results
None listed