NCT01197872

Clinical Use of Parental Support To Detect Single Gene Mutations

Phase II: Clinical Use of Parental Support To Detect Single Gene Mutations

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 240 (estimated)
• Sponsor: Natera, Inc. · Industry
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

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.

Detailed description

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.

Conditions

• Single Gene Disorders

Interventions

Type	Name	Description
OTHER	Preimplantation Genetic Diagnosis	Genetic testing on embryos to identify embryos that are affected by a single gene disorder (e.g. cystic fibrosis, Tay-Sachs, sickle cell anemia).

Timeline

• Start date: 2010-09-01
• Primary completion: 2013-06-01
• Completion: 2013-06-01
• First posted: 2010-09-09
• Last updated: 2013-07-16

Locations

1 site across 1 country: United States