Molecular Associations With Reproductive Failure

The recruitment status of this study is unknown because the information has not been verified recently.
Verified July 2011 by University of Pittsburgh.
Recruitment status was  Active, not recruiting
Sponsor:
Collaborator:
CROWN Foundation
Information provided by:
University of Pittsburgh
ClinicalTrials.gov Identifier:
NCT00298116
First received: February 27, 2006
Last updated: July 12, 2011
Last verified: July 2011
  Purpose

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.


Condition
Spontaneous Abortions
Infertility

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: Molecular Associations With Reproductive Failure

Resource links provided by NLM:


Further study details as provided by University of Pittsburgh:

Estimated Enrollment: 400
Study Start Date: September 2000
Detailed 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.

  Eligibility

Ages Eligible for Study:   18 Years to 45 Years
Genders Eligible for Study:   Female
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population

Patients are recruited through Genetics during a counseling session.

Criteria

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.
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00298116

Locations
United States, Pennsylvania
Magee-Womens Hospital
Pittsburgh, Pennsylvania, United States, 15213
Sponsors and Collaborators
University of Pittsburgh
CROWN Foundation
Investigators
Principal Investigator: W. Allen Hogge, MD University of Pittsburgh and Magee-Womens Hospital
  More Information

No publications provided

Responsible Party: W. Allen Hogge, MD, Magee-Womens Hospital-University of Pittsburgh
ClinicalTrials.gov Identifier: NCT00298116     History of Changes
Other Study ID Numbers: 0502108
Study First Received: February 27, 2006
Last Updated: July 12, 2011
Health Authority: United States: Institutional Review Board

Additional relevant MeSH terms:
Abortion, Spontaneous
Infertility
Pregnancy Complications
Genital Diseases, Male
Genital Diseases, Female

ClinicalTrials.gov processed this record on April 20, 2014