Clinical Use of Parental Support To Detect Single Gene Mutations

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

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.

Study Overview

• Status: Completed
• Conditions: Single Gene Disorders
• Intervention / Treatment: Other: Preimplantation Genetic Diagnosis

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.

• Study Type: Observational
• Enrollment (Anticipated): 240

Contacts and Locations

Study Locations

• United States
  • California
    • Redwood City, California, United States, 94063
      • Gene Security Network

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Couples in which both parents are carriers or one parent is affected by an inherited condition that they are at risk of passing on to their offspring. These couples must be planning to use In Vitro Fertilization (IVF) and Preimplantation Genetic Diagnosis (PGD).

Description

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.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Confirmation of diagnosis through prenatal diagnosis	Confirmation of PGS test results through prenatal diagnosis	10-20 weeks post intervention

Collaborators and Investigators

• Sponsor: Natera, Inc.
• Investigators: Principal Investigator: Matthew Rabinowitz, PhD, CEO, Gene Security Network

Study record dates

Study Major Dates

• Study Start: September 1, 2010
• Primary Completion (Actual): June 1, 2013
• Study Completion (Actual): June 1, 2013

Study Registration Dates

• First Submitted: September 3, 2010
• First Submitted That Met QC Criteria: September 8, 2010
• First Posted (Estimate): September 9, 2010

Study Record Updates

• Last Update Posted (Estimate): July 16, 2013
• Last Update Submitted That Met QC Criteria: July 12, 2013
• Last Verified: July 1, 2013

More Information

Terms related to this study

• Other Study ID Numbers: IVF008.5