Clinical Use of Parental Support To Detect Single Gene Mutations

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01197872
Recruitment Status : Completed
First Posted : September 9, 2010
Last Update Posted : July 16, 2013
Information provided by:
Natera, Inc.

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.

Condition or disease Intervention/treatment
Single Gene Disorders 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
Estimated Enrollment : 240 participants
Time Perspective: Prospective
Official Title: Phase II: Clinical Use of Parental Support To Detect Single Gene Mutations
Study Start Date : September 2010
Actual Primary Completion Date : June 2013
Actual Study Completion Date : June 2013

Resource links provided by the National Library of Medicine

Intervention Details:
  • 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).
    Other Names:
    • PGD
    • In Vitro Fertilization
    • IVF
    • Parental Support
    • Gene Security Network

Primary Outcome Measures :
  1. Confirmation of diagnosis through prenatal diagnosis [ Time Frame: 10-20 weeks post intervention ]
    Confirmation of PGS test results through prenatal diagnosis

Biospecimen Retention:   Samples With DNA
Whole blood, cheek swab/saliva samples, sperm samples, embryo biopsy samples

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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).

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01197872

United States, California
Gene Security Network
Redwood City, California, United States, 94063
Sponsors and Collaborators
Natera, Inc.
Principal Investigator: Matthew Rabinowitz, PhD CEO, Gene Security Network

Additional Information:
Responsible Party: Matthew Rabinowitz, PhD/ CEO and President, Gene Security Network Identifier: NCT01197872     History of Changes
Other Study ID Numbers: IVF008.5
First Posted: September 9, 2010    Key Record Dates
Last Update Posted: July 16, 2013
Last Verified: July 2013