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

NCT ID: NCT01023048

Last Updated: 2014-04-02

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 56 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2009-11-30
• Study Completion Date: 2014-03-31

Brief Summary

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.

Conditions

Any Single Gene Disorder (Cystic Fibrosis, Tay-Sachs)

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: DIAGNOSTIC
• Blinding Strategy: NONE

Study Groups

PGD testing

Group Type: EXPERIMENTAL

preimplantation diagnosis

Intervention Type: OTHER

genetic testing on embryos to identify embryos that are affected by a single gene disorder (e.g. cystic fibrosis, Tay-Sachs, sickle cell anemia)

Interventions

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)

Intervention Type: OTHER

Other Intervention Names

Parental Support Technology

Eligibility Criteria

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

• Maximum Eligible Age: 40 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Natera, Inc.

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Matthew Rabinowitz, PhD

Role: PRINCIPAL_INVESTIGATOR

Natera, Inc.

Locations

Gene Security Network

Redwood City, California, United States

Countries

United States

Other Identifiers

IVF008

Identifier Type: -

Identifier Source: org_study_id