An observational study in Infertility, sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). Completed at 1 site in United States. Open to female participants. Per ClinicalTrials.gov, last updated 2017-07-02.
Sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Observational
Approximately 15 percent of couples experience infertility, yet no abnormalities can be detected in the man or the woman. In a number of couples, their embryos unexpectedly slow down growth or stop growth completely. Some of these situations may be genetically determined. For instance, a portion of cases may be caused by poor egg quality related to genetic or functional deficiencies in heretofore unidentified human maternal effect genes. A model has been developed of such unexplained fertility by creating a mouse line lacking a critical maternal effect gene. (Maternal effect genes produce mRNA or proteins that accumulate in the egg and are required for normal early embryonic development.) This pilot project will test the hypothesis that a similar defect may be a cause of human infertility.
Thirty cubic centimeters of blood will be collected from 40 women who have a clinical history consistent with a defective maternal effect gene. DNA from these blood cells will be examined and stored. Some of the blood cells will be treated so that they can be frozen and grown in the laboratory to produce more DNA in the future. If certain mutations are not found, that means that the prevalence of such mutations is less than 10 percent, and investigators may initiate another study with 100 women. If a common mutation is found in at least four patients, the investigators will seek to collect DNA from 150 normal fertile control women for comparison.
This project is purely investigational; therefore, findings will not be shared with participants.
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The pilot investigation will examine the hypothesis that human infertility may be caused by mutations in the human MATER gene. We will determine the prevalence of these mutations in a select group of women who have a clinical infertility history consistent with a possible defect in a maternal effect gene. After obtaining informed consent and DNA from 100 women, relevant mutations in the MATER gene will be searched for by single strand conformation polymorphism analysis.
2,506 studies on the registry are indexed under Infertility; 407 are open to participants now.
This study's planned enrollment of 100 is below the median of 200 across 714 observational studies indexed under Infertility.
Browse Infertility studies →Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) is the lead sponsor of 416 studies on the registry; 25 are open to participants now.
Of its 13 completed or terminated interventional studies of FDA-regulated products, 10 (77%) have results posted.
Counted across the registry records on this site, refreshed daily.
Women to be included in this study will have a clinical infertility history that would be consistent with a possible defect in a maternal effect gene.
This includes women who meet the following criteria:
Women who have subsequently achieved a pregnancy by egg donation will be included.
Women of any age are eligible as long as they have otherwise met the inclusion criteria.
This study is completed, as verified in Mar 2011. You cannot join it, but the record below documents what was studied.
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Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)