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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01023048
Recruitment Status : Completed
First Posted : December 2, 2009
Last Update Posted : April 2, 2014
Information provided by (Responsible Party):
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.

Condition or disease Intervention/treatment Phase
Any Single Gene Disorder (Cystic Fibrosis, Tay-Sachs) Other: preimplantation diagnosis Not Applicable

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 56 participants
Intervention Model: Single Group Assignment
Masking: None (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
Study Start Date : November 2009
Actual Primary Completion Date : March 2014
Actual Study Completion Date : March 2014

Arm Intervention/treatment
Experimental: PGD testing 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

Primary Outcome Measures :
  1. Confirm diagnosis through prenatal diagnosis (CVS or amniocentesis) [ Time Frame: 10-20 weeks post intervention ]

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 40 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01023048

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

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Responsible Party: Natera, Inc. Identifier: NCT01023048     History of Changes
Other Study ID Numbers: IVF008
First Posted: December 2, 2009    Key Record Dates
Last Update Posted: April 2, 2014
Last Verified: April 2014

Keywords provided by Natera, Inc.:
preimplantation diagnosis

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