Clinical Use of Parental Support To Detect Single Gene Mutations

NCT01197872 | Completed

• 1 other identifier: IVF008.5
• Study Type: observational
• Target: 240
• Locations: 1 country
• Sites: 1

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.

Conditions

Single Gene Disorders

Outcome Measures

Primary Outcomes (1)

• Confirmation of diagnosis through prenatal diagnosis

  Confirmation of PGS test results through prenatal diagnosis

  10-20 weeks post intervention

Interventions

Preimplantation Genetic Diagnosis 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).

Also known as: PGD, In Vitro Fertilization, IVF, Parental Support, Gene Security Network

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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).

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Natera, Inc.: lead

Study Sites (1)

Gene Security Network

Redwood City, California, 94063, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

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

MeSH Terms

Interventions

Prostaglandins D; Fertilization in Vitro

Intervention Hierarchy (Ancestors)

Prostaglandins; Eicosanoids; Fatty Acids, Unsaturated; Fatty Acids; Lipids; Autacoids; Inflammation Mediators; Biological Factors; Reproductive Techniques, Assisted; Reproductive Techniques; Therapeutics; Investigative Techniques

Study Officials

• Matthew Rabinowitz, PhD

  CEO, Gene Security Network

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY

Study Record Dates

• First Submitted: September 3, 2010
• First Posted: September 9, 2010
• Study Start: September 1, 2010
• Primary Completion: June 1, 2013
• Study Completion: June 1, 2013
• Last Updated: July 16, 2013

Record last verified: 2013-07

Locations

US (1)