Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 112
- 试验地点
- 3
- 主要终点
- change in muscle function
研究概览
简要总结
Long-term outcome in late-onset Pompe disease treated beyond 36 months (ATBIG-Pompe-Study), a multicenter, multinational, longitudinal, non-interventional observational study in subjects, at least 8 years old, diagnosed with late-onset Pompe disease retrospectively and prospectively collects data to understand clinical progression in terms of muscle and respiratory function, and clinical symptomology treated with alglucosidase alfa more than 36 months in 100 subjects.
详细描述
The presentation and course of late-onset Pompe disease is much less foreseeable than the classic infantile form. Some patients experience a rapid worsening in skeletal muscle function leading to loss of ambulation and respiratory failure, while others progress less rapidly. So there is a more inconstant response to treatment in skeletal muscle and lung function in the long-term. Therefore, an unmet clinical need is the collection and analysis of long-term data of rhGAA enzyme replacement therapy (ERT) in late-onset Pompe disease patient aged 8 years and older. The principal goal of our investigator driven study is to gain conclusive insight in long-term outcome data beyond 36 months up to 10 years of ERT treatment. In addition we will collect biological samples from all patients for a future biomarker study including gene modifier search by genome and RNA seq (not part of this proposal). This study may provide clinicians and researchers with a better understanding of late-onset Pompe disease under long-term treatment, to the benefit of all patients affected with late-onset Pompe disease, as well as, individuals and families with related diseases.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 8 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Late-onset Pompe patients, aged over 8 years.
- •The patient is willing and able to provide signed informed consent.
- •The patient (and patient's legal guardian if patient is under 18 years of age) must have the ability to comply with the clinical protocol.
- •Long-term Myozyme treatment beyond 36 months.
- •Known GAA genotype.
- •GAA activity (Dried blood spot testing, or other methods).
排除标准
- •- The patient is concurrently participating in another clinical study using Myozyme or other treatment.
- •The patient, in the opinion of the Investigator, is unable to adhere to the requirements of the study.
- •The patient has clinically significant organic disease (with the exception of symptoms relating to Pompe disease), including clinically significant cardiovascular, hepatic, pulmonary, neurologic, or renal disease, or other medical condition, serious intercurrent illness, or extenuating circumstance that, in the opinion of the Investigator, precludes participation in the study or potentially decreases survival.
结局指标
主要结局
change in muscle function
时间窗: 12 months
To evaluate the degree of change in muscle function over time in patients with Pompe disease. % change in the 6-minute walking test (normal 600m in six minutes) between 0, 6 and 12 months of the study
次要结局
- data collection on survival, death and reason of deaths(12 months)
- changes in loss of ambulation(12 months)
- changes in maximal expiratory pressure (MEP)(12 months)
- changes in forced vital capacity (FVC)(12 months)
- changes in minimal inspiratory pressure (MIP)(12 months)
- changes in Medical Research Council (MRC) Scale for Muscle Strength(12 months)
研究者
Prof. Dr. Benedikt Schoser
Head of the interdisciplinar neuromuscular unit
LMU Klinikum