Natural History Study and Establishment of a Biorepository-TANGO2-related Disorder
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 300
- 试验地点
- 1
- 主要终点
- Number of participants with metabolic and cardiac crisis assessed by the number of hospitalizations
研究概览
简要总结
The study aims to establish a biorepository of individuals with TANGO2 deficiency to support scientific research and establish a comprehensive clinical database of affected individuals to understand the disease course.
详细描述
TANGO2-related disorder is a rare autosomal recessive genetic disorder that can cause recurrent rhabdomyolysis and life-threatening cardiac arrhythmias. Metabolic crises can be triggered by prolonged fasting and dehydration. Intellectual disability, seizures, hypothyroidism, and gait abnormalities are observed frequently. The function of TANGO2 is unknown and the pathogenesis of this disease is poorly understood. Understanding disease mechanism requires studying disease cells/samples and thus establishing a biobank of tissues (blood and fibroblasts) of individuals affected with TANGO2 deficiency is paramount. Natural History Study of TANGO2-related disorder will allow investigators to understand the course of the disease and develop new therapies in the future to decrease morbidity associated with this genetic condition.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Other
入排标准
- 年龄范围
- 0 Days 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •All patients with pathogenic TANGO2 variants will be included.
排除标准
- •Patients who do not have TANGO2-related disease will be excluded.
结局指标
主要结局
Number of participants with metabolic and cardiac crisis assessed by the number of hospitalizations
时间窗: 10 years
Detailed interview with participants and review of medical records will be used to assess the frequency and triggers of metabolic and cardiac crises
次要结局
未报告次要终点
研究者
Seema Lalani
Professor
Baylor College of Medicine