A Prospective Observational Study of Patients With Primary Mitochondrial Disease (SPIMM-300)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 215
- 试验地点
- 33
- 主要终点
- Assess the relationship of genotype to phenotype in patients with Primary Mitochondrial Disease
研究概览
简要总结
This is an observational study of patients with Primary Mitochondrial Disease with either signs or symptoms suggestive of myopathy. The Investigator will identify potential patients through existing medical records and one on-site visit.
详细描述
An observational study of patients with presumed Primary Mitochondrial Disease designed to better characterize and correlate symptoms and signs of myopathy and genetic test results and the use of commonly prescribed treatments. The study will help define and identify a subject population for a future trial of an investigational product to treat primary mitochondrial disease associated with signs and symptoms of myopathy.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- 16 Years 至 80 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Willing and able to provide a signed informed consent form (ICF) prior to participation in any-trial related procedures
- •Patient has clinical presentation of PMD with either signs or symptoms suggestive of myopathy
- •Patient is ambulatory and able to attempt 6MWT
排除标准
- •Patient has symptoms of PMD due to secondary mitochondrial dysfunction
- •Patient has had prior exposure to elamipretide
- •Patient does not have the cognitive capacity to understand and complete all study assessments
- •Patient has a medical history of severe renal impairment
- •History of active alcoholism or drug addiction during the year before enrollment
结局指标
主要结局
Assess the relationship of genotype to phenotype in patients with Primary Mitochondrial Disease
时间窗: 1 year
Compare local and regional differences in standard of care and management of patients with Primary Mitochondrial Disease
时间窗: 1 year
次要结局
- Compare local and regional differences in genetic testing methodologies for Primary Mitochondrial Disease(1 year)