Phase II: Clinical Use of Parental Support To Detect Single Gene Mutations
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- Natera, Inc.
- 入组人数
- 240
- 试验地点
- 1
- 主要终点
- Confirmation of diagnosis through prenatal diagnosis
研究概览
简要总结
Gene Security Network has developed a novel technology called Parental Support (PS) which is used for Preimplantation Genetic Screening/Diagnosis (PGS/D) during in vitro fertilization (IVF). This technology allows IVF physicians to identify embryos, prior to transfer to the uterus, which have the best chance of developing into healthy children.
详细描述
This study follows previous IRB approved study IVF008: Clinical Use of Parental Support To Detect Single Gene Mutations , which we will refer to as "Phase I".
The purpose of Phase I was to validate clinical use of PS to detect specific genetic mutation(s) known to cause severe inheritable diseases in embryos produced by at-risk couples, while simultaneously testing these embryos for aneuploidy. The Phase I study consisted of first of its kind PGS/D testing to detect disease-associated genetic mutations together with aneuploidy screening.
This study, which we will call "Phase II", will allow patients to continue to access testing while clinical data is collected on Phase I. Phase I of the study is nearing enrollment targets (40+ participating couples) and Phase I enrollment will be closed while subjects complete testing and study data is collected from pregnancies and livebirths. Phase II will allow: 1) additional data collection prior to commercial testing launch, 2) eligible patients to participate and receive testing.
研究设计
- 研究类型
- Observational
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •At risk couple (mother and father) who are:
- •Able to provide laboratory report from commercial CLIA certified laboratory in the United States or legitimate non-US laboratory confirming presence of disease associated mutation in mother and/or father
- •Planning to go through IVF and desiring PGD for the specified mutation
- •Planning to pursue Chorionic Villus Sampling (CVS) or Amniocentesis if pregnancy occurs and willing/able to provide CVS/ Amniocentesis sample to GSN for confirmatory testing or provide test results of confirmatory testing performed by an external laboratory.
排除标准
- •Couples without prior documentation of genetic mutation as specified above
- •Couples where the male partner is not willing, able, or available to provide a semen sample
- •Unwilling to have CVS/ Amniocentesis
- •In certain cases, unavailability of child sample or other suitable family member: Subjects will not be able to enroll in the study if, in the judgment of the research staff, validation is first required on a child (offspring of male and female subject) and there is no child or other family member that is a suitable substitute available for testing.
结局指标
主要结局
Confirmation of diagnosis through prenatal diagnosis
时间窗: 10-20 weeks post intervention
Confirmation of PGS test results through prenatal diagnosis
次要结局
未报告次要终点