Open label, single-center pilot study to investigate alglucosidase alfa (20 mg/kg) frequency reduction from 2 to 4 weeks in a subgroup of elderly patients with late-onset Pompe disease
试验速览
- 阶段
- 4 期
- 状态
- 招募中
- 入组人数
- 10
- 试验地点
- 1
- 主要终点
- Efficacy: - Muscle 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 positions, maximum inspiratory pressure (MIP), maximum expiratory pressure (MEP) - Patient reported outcome measures (PROMs): Rasch-built Pompe-specific activity (R-PAct) scale, SF-36 (QoL, quality of life)
研究概览
简要总结
The primary objective is to explore whether less frequent treatment with alglucosidase alfa 20 mg/kg (once every 4 weeks instead of once every 2 weeks) does not lead to increased progression of muscle strength, muscle function and pulmonary function in a selected group of elderly patients with LOPD who is in a stable condition (not requiring wheelchair use and respiratory support), and who is at no immediate risk of losing the ability to carry out important activities of daily living (ADLs). If this less frequent treatment regimen (once every 4 weeks instead of once every 2 weeks) proves to be safe for a period of 9 months, and does not lead to increased disease progression, we aim to investigate whether treatment can eventually be discontinued.
入排标准
- 年龄范围
- 18 years 至 65+ years（65+ Years, 18-64 Years）
- 接受健康志愿者
- 否
入选标准
- •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) • Age ≥50 years • Current treatment with alglucosidase alfa at a standard dose of 20 mg/kg once every 2 weeks for ≥4 years • Relatively stable clinical condition over the past year • Able to walk ≥150 m within 6 minutes (6MWT) • (Forced) vital capacity (FVC) in sitting position: >55% of expected value and in supine position: >45% of expected value • Willing and able to adhere to the study procedures
排除标准
- •Rapidly progressive muscle weakness • Severely limited muscle strength almost requiring/requiring daily wheelchair use. • Requiring respiratory support (non-invasive/invasive ventilation) or being at high risk to require respiratory support (ventilation) due to further deterioration of current pulmonary function. Using continuous positive airway pressure (CPAP) support only for obstructive sleep apnea syndrome (OSAS) is permitted. • Comorbidities which are expected to influence the primary outcome measures within the next 2 years.
结局指标
主要结局
Efficacy: - Muscle 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 positions, maximum inspiratory pressure (MIP), maximum expiratory pressure (MEP) - Patient reported outcome measures (PROMs): Rasch-built Pompe-specific activity (R-PAct) scale, SF-36 (QoL, quality of life)
Efficacy: - Muscle 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 positions, maximum inspiratory pressure (MIP), maximum expiratory pressure (MEP) - Patient reported outcome measures (PROMs): Rasch-built Pompe-specific activity (R-PAct) scale, SF-36 (QoL, quality of life)
Safety: - Vital signs: heart rate, blood pressure, respiratory rate - Weight - Assessment of treatment-emergent adverse events (TEAEs), including infusion associated reactions (IARs)
Safety: - Vital signs: heart rate, blood pressure, respiratory rate - Weight - Assessment of treatment-emergent adverse events (TEAEs), including infusion associated reactions (IARs)
次要结局
未报告次要终点
研究者
Ina Barzel
Scientific
Erasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)