Clinical Use of Parental Support To Detect Single Gene Mutations

NCT ID: NCT01197872

Last Updated: 2013-07-16

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 240 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2010-09-30
• Study Completion Date: 2013-06-30

Brief 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

Study Design

• Study Time Perspective: PROSPECTIVE

Interventions

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).

Intervention Type: OTHER

Other Intervention Names

PGD; In Vitro Fertilization; IVF; Parental Support; Gene Security Network

Eligibility Criteria

Inclusion Criteria

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.

Exclusion Criteria

• 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.

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Natera, Inc.

INDUSTRY

Sponsor Role: lead

Responsible Party

Gene Security Network

Principal Investigators

Matthew Rabinowitz, PhD

Role: PRINCIPAL_INVESTIGATOR

CEO, Gene Security Network

Locations

Gene Security Network

Redwood City, California, United States

Countries

United States

Other Identifiers

IVF008.5

Identifier Type: -

Identifier Source: org_study_id