Clinical Use of Parental Support To Detect Single Gene Mutations

Single Gene Disorders Clinical Trial

Official title:

Phase II: Clinical Use of Parental Support To Detect Single Gene Mutations

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01197872
• Other study ID #: IVF008.5
• Status: Completed
• Phase: N/A
• First received: September 3, 2010
• Last updated: July 12, 2013
• Start date: September 2010
• Est. completion date: June 2013

Study information

• Verified date: July 2013
• Source: Natera, Inc.
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Institutional Review Board
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 240
• Est. completion date: June 2013
• Est. primary completion date: June 2013
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

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.

Study Design

Time Perspective: Prospective

Related Conditions & MeSH terms

• Single Gene Disorders

Intervention

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).

Locations

Country	Name	City	State
United States	Gene Security Network	Redwood City	California

Sponsors (1)

Lead Sponsor	Collaborator
Natera, Inc.

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Confirmation of diagnosis through prenatal diagnosis	Confirmation of PGS test results through prenatal diagnosis	10-20 weeks post intervention	No

External Links

•   Gene Security Network company website