Molecular Associations With Reproductive Failure

Infertility Clinical Trial

Official title:

Molecular Associations With Reproductive Failure

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00298116
• Other study ID #: 0502108
• Status: Completed
• Phase: N/A
• First received: February 27, 2006
• Last updated: December 5, 2014
• Start date: September 2000
• Est. completion date: January 2008

Study information

• Verified date: December 2014
• Source: University of Pittsburgh
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Institutional Review Board
• Study type: Observational

Clinical Trial Summary

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.

Description:

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 475
• Est. completion date: January 2008
• Est. primary completion date: January 2008
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Female
• Age group: 18 Years to 45 Years

Eligibility

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.

Study Design

Observational Model: Case Control, Time Perspective: Prospective

Related Conditions & MeSH terms

• Abortion, Spontaneous
• Infertility
• Spontaneous Abortions

Locations

Country	Name	City	State
United States	Magee-Womens Hospital	Pittsburgh	Pennsylvania

Sponsors (2)

Lead Sponsor	Collaborator
University of Pittsburgh	CROWN Foundation

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Skewed X-Inactivation is not associated with Reproductive Failure		5 years	No