Now Available for Public Comment: Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials

Clinical Use of Parental Support To Detect Single Gene Mutations

This study has been completed.
Sponsor:
Information provided by:
Natera, Inc.
ClinicalTrials.gov Identifier:
NCT01197872
First received: September 3, 2010
Last updated: July 12, 2013
Last verified: July 2013
  Purpose

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 Intervention
Single Gene Disorders
Other: Preimplantation Genetic Diagnosis

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: Phase II: Clinical Use of Parental Support To Detect Single Gene Mutations

Resource links provided by NLM:


Further study details as provided by Natera, Inc.:

Primary Outcome Measures:
  • Confirmation of diagnosis through prenatal diagnosis [ Time Frame: 10-20 weeks post intervention ] [ Designated as safety issue: No ]
    Confirmation of PGS test results through prenatal diagnosis


Biospecimen Retention:   Samples With DNA

Whole blood, cheek swab/saliva samples, sperm samples, embryo biopsy samples


Estimated Enrollment: 240
Study Start Date: September 2010
Study Completion Date: June 2013
Primary Completion Date: June 2013 (Final data collection date for primary outcome measure)
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
    • Preimplantation Genetic Diagnosis
    • In Vitro Fertilization
    • IVF
    • Parental Support
    • Gene Security Network
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

Genders Eligible for Study:   Both
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).

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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01197872

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

Additional Information:
No publications provided

Responsible Party: Matthew Rabinowitz, PhD/ CEO and President, Gene Security Network
ClinicalTrials.gov Identifier: NCT01197872     History of Changes
Other Study ID Numbers: IVF008.5
Study First Received: September 3, 2010
Last Updated: July 12, 2013
Health Authority: United States: Institutional Review Board

ClinicalTrials.gov processed this record on November 19, 2014