Protocol Number: 02-CH-0195

Title:

Human MATER and Idiopathic Infertility

Number:

02-CH-0195

Summary:

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.

Sponsoring Institute:

National Institute of Child Health and Human Development (NICHD)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Female

Referral Letter Required: Yes

Population Exclusion(s): Male

Children

Eligibility 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.

Special Instructions:

Currently Not Provided

Keywords:

Maternal Effect Gene

Embryonic Development

Recruitment Keyword(s):

Infertility

Condition(s):

Infertility

Investigational Drug(s):

None

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Institute of Child Health and Human Development

Contact(s):

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s):

Collins JA, Crosignani PG Unexplained infertility: a review of diagnosis, prognosis, treatment efficacy and management Int J Gynaecol Obstet 1992 Dec;39(4):267-75

Greenhouse S, Genetic causes of female infertility: targeted mutagenesis in mice Am J Hum Genet 1998 Jun;62(6):1282-7

Schultz RM Regulation of zygotic gene activation in the mouse Bioessays 1993 Aug;15(8):531-8

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