An open-label, single-center study on the safety and efficacy of avalglucosidase alpha in late-onset Pompe patients =5 years

An open-label, single-center study on the safety and efficacy of avalglucosidase alpha in late-onset Pompe patients =5 years - AVA

Status

Active, not recruiting

Phases

Phase 3

Study type

Interventional

Source

EU CTR

Registry ID

EUCTR2019-002251-42-NL

Enrollment

Registered

2022-06-23

Start date

Unknown

Completion date

Unknown

Last updated

2025-02-03

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

Conditions

Late onset Pompe disease MedDRA version: 24.0 Level: LLT Classification code 10036143 Term: Pompe's disease System Organ Class: 100000004850

Interventions

Product Name: avalglucosidase alfa Product Code: GZ402666 Pharmaceutical Form: Powder for concentrate and solution for solution for infusion INN or Proposed INN: ALGLUCOSIDASE ALFA CAS Number: 420784

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: - Age = 5 years and = 55 years. - Childhood or juvenile/young adult onset. - Residing in the Netherlands - 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. Are the trial subjects under 18? yes Number of subjects for this age range: 1 F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range 4 F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range

Exclusion criteria

Exclusion criteria: - Age >55 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
Main Objective: Investigating the safety and effectiveness of avalglucosidase alpha (AVA), formerly known as neo-GAA in patients with the late-onset form of Pompe disease who are already treated with alglucosidase alpha (Myozyme) and are deteriorating despite this therapy. ;Secondary Objective: Not applicable ;Primary end point(s): -Muscle strength: -Muscle function: -Pulmonary function: -‘PRO-measures’: ;Timepoint(s) of evaluation of this end point: Week 12, 26 and 38 (3, 6, 9 months), and at 1 year	—

Measure

Time frame

Main Objective: Investigating the safety and effectiveness of avalglucosidase alpha (AVA), formerly known as neo-GAA in patients with the late-onset form of Pompe disease who are already treated with alglucosidase alpha (Myozyme) and are deteriorating despite this therapy. ;Secondary Objective: Not applicable ;Primary end point(s): -Muscle strength: -Muscle function: -Pulmonary function: -‘PRO-measures’: ;Timepoint(s) of evaluation of this end point: Week 12, 26 and 38 (3, 6, 9 months), and at 1 year

—

Secondary

Measure	Time frame
Secondary end point(s): Safety ;Timepoint(s) of evaluation of this end point: Every two weeks	—

Countries

Netherlands

Outcome results

None listed

Source: EU CTR (via WHO ICTRP) · Data processed: Feb 4, 2026