Concurrent Single Gene and 24 Chromosome Aneuploidy Preimplantation Genetic Diagnosis (PGD) (IVF008)

April 1, 2014 updated by: Natera, Inc.

First Use of Parental Support Technology(R) for Single Gene Analysis Plus Aneuploidy Screening in Preimplantation Genetic Diagnosis

Gene Security Network has developed a novel technology called Parental SupportTM (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. The purpose of this study is 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. This may be done while simultaneously testing these embryos for aneuploidy. This study will allow for first of its kind commercial PGS/D testing to detect disease-associated genetic mutations together with aneuploidy screening.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Actual)

56

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

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

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 40 years (ADULT, CHILD)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Description

Inclusion Criteria:

  • couple (mother and father)at risk to have a child with a single gene disorder (e.g. cystic fibrosis, Tay-Sachs, sickle cell anemia)
  • Able to provide laboratory report from commercial CLIA certified laboratory confirming presence of disease associated mutation in mother and/or father
  • couple planning to go through IVF and desiring PGD for the specified mutation
  • Father (male) willing and able to provide sperm sample
  • Maternal (female's) age <40 years (e.g., 39 or younger)
  • CVS/Amnio planned once the pregnancy occurs; willing/able to provide amnio/cvs sample for confirmatory testing or provide test results of confirmatory testing performed by an external CLIA certified laboratory.
  • FSH <10 (FSH = Follicle Stimulating Hormone. FSH is an indicator of egg quality and rough predictor of egg stimulation success. FSH is routinely measured by the IVF center prior to beginning an IVF cycle.)

Exclusion Criteria:

  • Couples without prior documentation of genetic mutation as specified above
  • Adult couples where the male partner is not willing, able, or available to provide a semen sample.
  • Maternal age >=40 years
  • Couple unwilling to have amnio/cvs

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: DIAGNOSTIC
  • Allocation: NA
  • Interventional Model: SINGLE_GROUP
  • Masking: NONE

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
EXPERIMENTAL: PGD testing
Other: preimplantation 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:
  • Parental Support Technology

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Confirm diagnosis through prenatal diagnosis (CVS or amniocentesis)
Time Frame: 10-20 weeks post intervention
10-20 weeks post intervention

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Natera, Inc.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

November 1, 2009

Primary Completion (ACTUAL)

March 1, 2014

Study Completion (ACTUAL)

March 1, 2014

Study Registration Dates

First Submitted

November 30, 2009

First Submitted That Met QC Criteria

November 30, 2009

First Posted (ESTIMATE)

December 2, 2009

Study Record Updates

Last Update Posted (ESTIMATE)

April 2, 2014

Last Update Submitted That Met QC Criteria

April 1, 2014

Last Verified

April 1, 2014

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • IVF008

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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