Clinical trial NCT01197872: Clinical Use of Parental Support To Detect Single Gene Mutations
Official title: Phase II: Clinical Use of Parental Support To Detect Single Gene Mutations
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Single Gene Disorders
Lead sponsor: Natera, Inc.
Sponsor class: INDUSTRY
First posted: 2010-09-09
Enrollment: 240
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Time perspective: PROSPECTIVE
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).

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.

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.

Primary outcomes:
measure: Confirmation of diagnosis through prenatal diagnosis
timeFrame: 10-20 weeks post intervention
Secondary outcomes:
Other outcomes:
Locations:
city: Redwood City
country: United States
facility: Gene Security Network
state: California
Study officials:
affiliation: CEO, Gene Security Network
name: Matthew Rabinowitz, PhD
role: PRINCIPAL_INVESTIGATOR
References: