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临床试验/NCT01663584
NCT01663584撤回不适用

Collection of Blood Samples for Development of Multi-disease Carrier Testing

Natera, Inc.1 个研究点 分布在 1 个国家开始时间: 2012年8月最近更新:
适应症

试验速览

阶段
不适用
状态
撤回
发起方
Natera, Inc.
试验地点
1

研究概览

简要总结

The purpose of this study is to collect blood samples to enable validation of genetic testing for diseases within a multi-disease carrier screening panel. Samples will be collected from adult women or men who have previously tested positive as carriers for various recessive conditions. These are healthy adults who carry a mutation that might place them at increased risk of having a child with a specific genetic disorder. Study participation will be open to adults that were previously tested as part of their routine medical care and where test results demonstrated positive carrier status for a specific genetic disease. Samples will be tested for the disease mutation for which the subjects provides documentation of prior testing.

研究设计

研究类型
Observational

入排标准

年龄范围
18 Years 至 —(Adult, Older Adult)
性别
All
接受健康志愿者

入选标准

  • 18 years of age or older
  • Individuals who are carriers of an SMN1 deletion consistent with Spinal Muscular Atrophy carrier status and are able to provide documentation of carrier status determined from prior testing
  • Able to provide a blood sample
  • Pregnant women may be include in the study

排除标准

  • Minors under the age of 18 years
  • Individuals who are not carriers of a Spinal Muscular Atrophy mutation
  • Individuals who are unable to provide documentation of Spinal Muscular Atrophy carrier status.

研究者

发起方
Natera, Inc.
申办方类型
Industry
责任方
Sponsor

研究点 (1)

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