NCT01547767已完成不适用
Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)1 个研究点 分布在 1 个国家目标入组 2 人开始时间: 2012年2月1日最近更新:
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 2
- 试验地点
- 1
研究概览
简要总结
Background:
- A mutation in a gene known as ISCU was found to be the cause of a rare myopathy that affects the muscles. Researchers collected clinical samples from people with this myopathy. More research is being done to develop a therapy for this disease. Researchers are asking for permission to study the samples already collected.
Objectives:
- To allow researchers to use clinical samples collected to study new treatments for ISCU myopathy.
Eligibility:
- People with ISCU myopathy who have provided clinical samples for study.
Design:
- Participants will allow researchers to study clinical samples already collected. Blood, urine, muscle, and cell samples may be used. Medical records and photographs may also be studied.
- Treatment will not be provided as part of this study.
详细描述
In 2008, NIH investigators collaborated to find a mutation in the human gene, ISCU, which is the official human gene name for a gene involved in assembly of iron sulfur clusters, and is abbreviated from Iron Sulfur Cluster assembly protein, U, which was identified as the cause of a rare myopathy that affected about 25 patients in Sweden. This protocol is intended to allow for the collection and analysis of clinical specimens and medical information from several research subjects who previously participated in studies that led to identification of the disease gene.
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
- 18 Years 至 80 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- 未提供
研究者
研究点 (1)
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