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Human MATER and Idiopathic Infertility

This study has been completed.
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00361816
First received: August 8, 2006
Last updated: March 30, 2011
Last verified: March 2011
  Purpose

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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Condition
Infertility

Study Type: Observational
Official Title: Human MATER and Idiopathic Infertility

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 100
Study Start Date: May 2002
Estimated Study Completion Date: March 2011
Detailed Description:

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.

  Eligibility

Genders Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Criteria
  • INCLUSION CRITERIA:

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:

  1. a clinical diagnosis of infertility,
  2. never been pregnant, and
  3. undergone treatment by in vitro fertilization and had at least 8 fertilized eggs as part of at least one in vitro fertilization cycle that failed to lead to a clinical pregnancy.

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.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00361816

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
  More Information

Publications:
ClinicalTrials.gov Identifier: NCT00361816     History of Changes
Other Study ID Numbers: 020195, 02-CH-0195
Study First Received: August 8, 2006
Last Updated: March 30, 2011
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Maternal Effect Gene
Embryonic Development
Infertility

Additional relevant MeSH terms:
Infertility
Genital Diseases, Female
Genital Diseases, Male

ClinicalTrials.gov processed this record on November 27, 2014