Tissue Study for Mitochondrial Disorders
试验速览
- 阶段
- 不适用
- 状态
- Enrolling By Invitation
- 入组人数
- 6,900
- 试验地点
- 1
- 主要终点
- Number of patients with reduced respiratory chain enzyme levels
研究概览
简要总结
The investigators are studying patients with undefined mitochondrial diseases to identify genetic mutations in nuclear or mitochondrial Deoxyribonucleic Acid (DNA). Most patients with suspected or known mitochondrial diseases have no genetic confirmation. The investigators expect that evaluating tissue samples from patients with mitochondrial disorders will lead us to discover mutations in new or known genes causing mitochondrial dysfunction.
详细描述
Presently, the investigators know of about 200 mitochondrial disorders. The investigators know that there are about 1,300 genes responsible for mitochondrial function. Thus, there are a lot of mutated genes to be discovered out there. Currently, most patients with suspected or known mitochondrial disorders do not have genetic confirmation of the disease.
The goal of this project is to perform biochemical and DNA analysis on tissue samples of patients with mitochondrial disorders to find new genes that might be involved in mitochondrial dysfunction.
Leftover patient tissue samples will be obtained for analysis from within the Columbia Presbyterian Medical Center. Left over patient samples may also be sent from outside the institution. This is not a "first-step" in the diagnostic process, but rather an option for evaluation in patient samples for which no known diagnosis or genetic confirmation has been made.
The research laboratory does not guarantee that a sample will be analyzed. Sample analysis is performed according to research interest. If they choose, patients can be contacted should laboratory findings provide insight into their disease.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Patients suspected of having a mitochondrial disorder
- •Patients who may carry a genetic mutation or be related to someone with a genetic mutation which may cause a mitochondrial disorder
排除标准
- •Patients who are not suspected of having a mitochondrial disorder
研究组 & 干预措施
Mitochondrial disease
Patients with known or suspected DNA mutations that affect mitochondrial function. Patients with suspected mitochondrial disorders
结局指标
主要结局
Number of patients with reduced respiratory chain enzyme levels
时间窗: Up to 2 years
Biochemical studies involving mitochondrial function. The levels will be compared to normal levels.
次要结局
- Number of new genetic mutations(Up to 2 years)