An open-label, single-center, exploratory study of the safety and efficacy of avalglucosidase alfa in patients with non-classic Pompe disease aged >= 5 years.

Phase 4

Recruiting

Conditions: glycogen storage disease type II or acid maltase deficiency
Pompe disease
10027424

Registration Number: NL-OMON56788

Lead Sponsor: Erasmus MC, Universitair Medisch Centrum Rotterdam

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 6

Inclusion Criteria

- Age >= 5 years and =< 50 years.
- Childhood or juvenile/young adult onset.
- Residing in the Netherlands or Belgium.
- Current Enzyme-replacement therapy with alglucosidase alfa >= 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 <= 80% predicted (mechanic
ventilation during the
day or night allowed).
- Measurable muscle weakness in proximal and/or distal muscle groups
(non-
ambulant/wheelchair bound patients allowed).
- Measurable functional ability.

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

Study & Design

Study Type: Interventional

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>- Muscle strength:<br /><br>* manual muscle testing (MMT)<br /><br>* hand-held dynamometry (HHD)<br /><br>- Muscle function:<br /><br>* Quick Motor Function test (QMFT)<br /><br>* six Minute Walk Test (6MWT)<br /><br>* timed tests.<br /><br>- Pulmonary function:<br /><br>* (forced) vital capacity ((F)VC) in sitting and supine positions<br /><br>* Maximum Inspiratory Pressure (MIP), Maximum Expiratory Pressure (MEP)<br /><br>- PRO-measures:<br /><br>* Rasch-build Pompe Activity scale (R-PAct)<br /><br>* Quality of Life (QoL; SF-36, TACQOL)<br /><br>* modified Borg scale<br /><br>* hours of ventilation per day </p><br>

Secondary Outcome Measures