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

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.

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Key information

Conditions

Any Single Gene Disorder (Cystic Fibrosis, Tay-Sachs) Congenital, Hereditary, and Neonatal Diseases and Abnormalities Cystic Fibrosis Digestive System Diseases Genetic Diseases, Inborn Infant, Newborn, Diseases Lung Diseases Pancreatic Diseases Respiratory Tract Diseases

Age range

Up to 40 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Gene Security Network

Redwood City, California, 94063, United States

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

preimplantation 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)

Other names: Parental Support Technology

Primary outcomes

Confirm diagnosis through prenatal diagnosis (CVS or amniocentesis)

Time frame: 10-20 weeks post intervention

Sponsors and collaborators

Lead sponsor

Natera, Inc.

Industry

Registry information

Official study title

First Use of Parental Support Technology(R) for Single Gene Analysis Plus Aneuploidy Screening in Preimplantation Genetic Diagnosis

Acronym: IVF008

Important dates

Study start: 2009
Primary completion: 2014
Study completion: 2014
First posted: Dec 2, 2009
Registry last updated: Apr 2, 2014

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed