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

Not Applicable

Completed

• Conditions: Any Single Gene Disorder (Cystic Fibrosis, Tay-Sachs)
• Interventions: Other: preimplantation diagnosis

• Registration Number: NCT01023048
• Lead Sponsor: Natera, Inc.

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2009-11
• Study First Submitted: 2009-11-30
• Study First Submitted QC: 2009-11-30
• Study First Posted: 2009-12-02
• Primary Completion: 2014-03
• Study Completion: 2014-03
• Status Verified: 2014-04
• Last Update Submitted: 2014-04-01
• Last Update Posted: 2014-04-02

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 56

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 & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
PGD testing	preimplantation diagnosis	-

Primary Outcome Measures

Name	Time	Method
Confirm diagnosis through prenatal diagnosis (CVS or amniocentesis)	10-20 weeks post intervention

Trial Locations

Locations (1)

Gene Security Network; 🇺🇸 Redwood City, California, United States