ALGLUCOSIDASE ALFA for Pompe disease

Inclusion criteria

• {"criterion_text":"- To be eligible for this study, a subject must meet all of the following criteria: • LOPD (confirmed diagnosis: enzyme deficiency in any tissue source and/or 2 confirmed disease-causing variants in the GAA gene)\n- • Age ≥50 years\n- • Current treatment with ERT at a standard dose of 20 mg/kg once every 2 weeks for ≥4 years. Patients who switched to a different type of ERT during these 4 years must have received the 'new' ERT for at least 1 year and had a stable clinical course after the switch\n- •\tRelatively stable clinical condition over the past year\n- • Able to walk ≥150 m within 6 minutes (6MWT)\n- • Non-invasive ventilation in supine position or, in case of no (non-invasive) ventilation,(forced) vital capacity (FVC) in sitting position: >55% of expected value and in supine position: >45% of expected value\n- • Willing and able to adhere to the study procedures"}

Exclusion criteria

• {"criterion_text":"- • Rapidly progressive muscle weakness.\n- • Severely limited muscle strength almost requiring/requiring daily wheelchair use.\n- • Requiring respiratory support (non-invasive/invasive ventilation) during the day while awake and seated, or being at high risk to require respiratory support (ventilation) either during the day or at night due to further deterioration of current pulmonary function.\n- •\tComorbidities which are expected to influence the primary outcome measures within the next 2 years."}

Primary endpoints

• {"endpoint_text":"- Efficacy: -\tMuscle strength: manual muscle testing (MMT), hand-held dynamometry (HHD) - Muscle function: 6-minute walk test (6MWT), quick motor function test (QMFT) - Pulmonary function: forced vital capacity (FVC) in sitting and supine position, maximum inspiratory pressure (MIP), maximum expiratory pressure (MEP) - Patient reported outcome measures (PROMs): modified Rasch-built Pompe-specific activity (mR-PAct) scale, SF-36 (QoL, quality of life)","definition_or_measurement_approach":"Measured by manual muscle testing (MMT) and hand-held dynamometry (HHD) for muscle strength; 6MWT and QMFT for muscle function; FVC (sitting and supine), MIP, MEP for pulmonary function; PROMs via mR-PAct and SF-36 questionnaires."}
• {"endpoint_text":"- Safety: - Vital signs: heart rate, blood pressure, respiratory rate -\tWeight - Assessment of treatment-emergent adverse events (TEAEs), including infusion associated reactions (IARs)","definition_or_measurement_approach":"Safety assessed by measuring vital signs (heart rate, blood pressure, respiratory rate), weight, and recording treatment-emergent adverse events (TEAEs) including infusion-associated reactions (IARs)."}

Netherlands

Earliest CTIS Part Ii Submission Date

20-10-2024

Latest Decision Or Authorization Date

20-10-2025

Processing Time Days

365

Number Of Sites

1

Number Of Participants

10

Primary sponsor

Full Name

Erasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)

Organisation Type

Hospital/Clinic/Other health care facility

Country Of Registered Address

Netherlands