An Open Label, Single Center, Exploratory Study of the Safety and Efficacy of Avalglucosidase Alfa Patients With Non-classic Pompe Disease Aged ≥ 5 Years
试验速览
- 阶段
- 4 期
- 状态
- 进行中（未招募）
- 发起方
- 入组人数
- 6
- 试验地点
- 1
研究概览
简要总结
The goal of this clinical trial is to study the efficacy and safety of treatment with avalglucosidase alfa in patients with late onset Pompe disease that previously deteriorated on alglucosidase alfa.
The main question it aims to answer is:
- Is switching to avalglucosidase alfa in late-onset Pompe patients deteriorating on alglucosidase alfa safe?
- Is switching to avalglucosidase alfa in late-onset Pompe patients deteriorating on alglucosidase alfa potentially more effective?
Participants will switch to biweekly avalglucosidase alfa infusions (instead of alglucosidase alfa infusions) and perform assessment for:
- Efficacy: muscle strength and function, pulmonary function, patient-reported outcomes.
- Safety: Adverse events assessment, physical examination, clinical laboratory evaluations, vital signs, ECGs and immunogenicity assessments.
- Pharmacokinetic assessments during 2 avalglucosidase alfa infusions.
详细描述
Rationale: Not all patients with non-classic Pompe disease have a good response to current treatment with alglucosidase alfa. Therefore innovative enzyme replacement therapies are developed. The study drug avalglucosidase alfa has been tested in multiple clinical studies and will now be studied in a small population of patients that are unresponsive to alglucosidase alfa.
Objective: To explore safety, tolerability and efficacy of avalglucosidase alfa in patients with non-classic Pompe disease aged ≥ 5 years of whom clinical condition deteriorates while on standard treatment with alglucosidase alfa.
Study design: Single-center, open-label, repeated bi-weekly intravenous infusion study of avalglucosidase alfa in patients with non-classic Pompe disease patients aged ≥ 5 years, previously treated with alglucosidase alfa.
Study population: Non-classic Pompe disease patients aged ≥ 5 years and ≤ 55 years previously treated ≥ 2 years with alglucosidase alfa, who deteriorate despite treatment with alglucosidase alfa at a dose of 20 or 40 mg/kg bi-weekly.
Total number of patients = 6.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 5 Years 至 55 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age> 5 years and < 55 years
- •Childhood or juvenile/adult onset
- •Residing in the Netherlands
- •Current ERT with alglucosidase alfa> 2 years (dose regimen 20 or 40 mg/kg bi-weekly).
- •Confirmed diagnosis: enzyme deficiency in any tissue source and/or 2 confirmed disease-causing variants in the GAA gene.
- •Willing and able to adhere to study procedures
- •Deterioration in pulmonary function and/or 6MWT and/or 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
排除标准
- •Age>55 years
- •Invasive mechanical ventilation
- •No remaining useful functional ability, as decided by the treating physician
- •Unmanageable, sever IAR's 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
研究者
Iris Plug
Sub-investigator, epidemiologist
Erasmus Medical Center