Text Size

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

This study is ongoing, but not recruiting participants.
Sponsor:
Information provided by:
Natera, Inc.
ClinicalTrials.gov Identifier:
NCT01023048
First received: November 30, 2009
Last updated: August 9, 2012
Last verified: August 2012
History of Changes
  Purpose

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.


Condition Intervention
Any Single Gene Disorder (Cystic Fibrosis, Tay-Sachs)
 Other: preimplantation diagnosis

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Diagnostic
Official Title: First Use of Parental Support Technology(R) for Single Gene Analysis Plus Aneuploidy Screening in Preimplantation Genetic Diagnosis

Resource links provided by NLM:

MedlinePlus related topics: Cystic Fibrosis
U.S. FDA Resources

Further study details as provided by Natera, Inc.:

Primary Outcome Measures:
  • Confirm diagnosis through prenatal diagnosis (CVS or amniocentesis) [ Time Frame: 10-20 weeks post intervention ] [ Designated as safety issue: No ]

Estimated Enrollment: 60
Study Start Date: November 2009
Estimated Study Completion Date: December 2013
Estimated Primary Completion Date: December 2013 (Final data collection date for primary outcome measure)
Intervention Details:
    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 Name: Parental Support Technology
  Eligibility

Ages Eligible for Study:   up to 40 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
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
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01023048

Locations
United States, California
Gene Security Network
Redwood City, California, United States, 94063
Sponsors and Collaborators
Natera, Inc.
Investigators
Principal Investigator: Matthew Rabinowitz, PhD Natera, Inc.
  More Information

No publications provided

Responsible Party: Matthew Rabinowitz, PhD, Gene Security Network
ClinicalTrials.gov Identifier: NCT01023048     History of Changes
Other Study ID Numbers: IVF008
Study First Received: November 30, 2009
Last Updated: August 9, 2012
Health Authority: United States: Institutional Review Board

Keywords provided by Natera, Inc.:
preimplantation diagnosis

Additional relevant MeSH terms:
Aneuploidy
Cystic Fibrosis
Fibrosis
Chromosome Aberrations
Pathologic Processes
Pancreatic Diseases
 Digestive System Diseases
Lung Diseases
Respiratory Tract Diseases
Genetic Diseases, Inborn
Infant, Newborn, Diseases

ClinicalTrials.gov processed this record on May 21, 2013