Concurrent Single Gene and 24 Chromosome Aneuploidy Preimplantation Genetic Diagnosis (PGD) - Full Text View

Sponsor:	Gene Security Network
Information provided by:	Gene Security Network
ClinicalTrials.gov Identifier:	NCT01023048

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:

Genetics Home Reference related topics: cystic fibrosis Help Me Understand Genetics

MedlinePlus related topics: Cystic Fibrosis

U.S. FDA Resources

Further study details as provided by Gene Security Network:

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 2010
Estimated Primary Completion Date:	December 2010 (Final data collection date for primary outcome measure)

Intervention Details:

genetic testing on embryos to identify embryos that are affected by a single gene disorder (e.g. cystic fibrosis, Tay-Sachs, sickle cell anemia)

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

Contacts

Contact: Nina Wemmer, MS, CGC	650-249-9090 ext 342	singlegenestudy@genesecurity.net
Contact: Jennifer Keller, MS, CGC	650-249-9090	jkeller@genesecurity.net

Locations

United States, California
Gene Security Network	Recruiting
Redwood City, California, United States, 94063
Contact: Nina Wemmer, MS, CGC 650-249-9090 ext 342 nwemmer@genesecurity.net
Contact: Jennifer Keller, MS, CGC 650-249-9090 jkeller@genesecurity.net
Principal Investigator: Matthew Rabinowitz, PhD

Sponsors and Collaborators

Gene Security Network

Investigators

Principal Investigator:

Matthew Rabinowitz, PhD

Gene Security Network

More Information

No publications provided

Responsible Party:	Gene Security Network ( Matthew Rabinowitz, PhD )
ClinicalTrials.gov Identifier:	NCT01023048 History of Changes
Other Study ID Numbers:	IVF008
Study First Received:	November 30, 2009
Last Updated:	June 1, 2010
Health Authority:	United States: Institutional Review Board

Keywords provided by Gene Security Network:

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 August 31, 2010