Molecular Associations With Reproductive Failure

NCT ID: NCT00298116

Last Updated: 2014-12-08

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

475 participants

Study Classification

OBSERVATIONAL

Study Start Date

2000-09-30

Study Completion Date

2008-01-31

Brief Summary

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The overall hypothesis to be tested is: women with the molecular phenotype of highly skewed X chromosome inactivation are at increased risk of spontaneous abortion.

Detailed Description

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The overall hypothesis to be tested is: women with the molecular phenotype of highly skewed X chromosome inactivation are at increased risk of spontaneous abortion.

We will investigate this hypothesis through two complimentary aims. In the Background and Significance section, we first present data on a 53-member pedigree segregating an X-linked recessive lethal defect that results in skewed X inactivation in the carrier females via secondary selection against those cells with the defective X chromosome active. We have characterized this deletion to be a 500 kb (approximate) deletion in distal Xq28. Moreover, the carrier females show a statistically significant increase in the frequency of spontaneous abortion as compared to non-deletion carrying relatives. Secondly, in the Preliminary Studies section, we present data from a population based case-control study wherein highly skewed X chromosome inactivation is significantly correlated with idiopathic recurrent spontaneous abortion. This protocol attempts to elucidate the mechanism underlying this association.

The first specific aim is to determine if women with highly skewed X chromosome inactivation are at risk of pregnancy loss. This will be accomplished through a prospective protocol, analyzing X chromosome inactivation patterns in pregnant women and investigating a possible association between X chromosome inactivation and pregnancy outcome. The second aim will study the nature of pregnancy loss in women with skewed X chromosome inactivation. This aim will correlate maternal X inactivation patterns with abortus karyotype.

Conditions

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Spontaneous Abortions Infertility

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

* Patients are prospectively ascertained women with either a new pregnancy (specific aim 1), or a spontaneous abortion (specific aim 2).
* Given our enrollment strategy, we anticipate enrolling women between the ages of 18 and 45.

Exclusion Criteria

* The study is limited only to females.
* Children are not eligible to participate in this study. Because the patient populations studied are (aim 1) women with primary infertility undergoing fertility treatment and (aim 2) women who have recently had a spontaneous abortion, the research topic is irrelevant to children.
Minimum Eligible Age

18 Years

Maximum Eligible Age

45 Years

Eligible Sex

FEMALE

Accepts Healthy Volunteers

Yes

Sponsors

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Crown Family Philanthropies

OTHER

Sponsor Role collaborator

University of Pittsburgh

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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W. Allen Hogge, MD

Role: PRINCIPAL_INVESTIGATOR

University of Pittsburgh and Magee-Womens Hospital

Locations

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Magee-Womens Hospital

Pittsburgh, Pennsylvania, United States

Site Status

Countries

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United States

Other Identifiers

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0502108

Identifier Type: -

Identifier Source: org_study_id