X-Chromosome Inactivation Status and Premature Ovarian Failure

December 5, 2014 updated by: University of Pittsburgh
Women who are affected with premature ovarian failure will exhibit skewed X-chromosome inactivation patterns compared to women with normal menstrual function (as defined by being pregnant), indicating a possible X-chromosome defect.

Study Overview

Status

Completed

Conditions

Detailed Description

Premature ovarian failure (POF) affects approximately 1% of women. For most women a cause is not found, but structural abnormalities of the X-chromosome commonly lead to POF, suggesting genes on the X-chromosome are necessary for normal ovarian function. It is known that certain gene mutations on the X-chromosome can lead to changes in the normal random pattern of X-chromosome inactivation in females.

We propose to study X-inactivation patterns in a cohort of women with idiopathic POF, and compare their pattern to a mean age-matched cohort of women with normal menstrual function.

We hypothesize that some women with POF will show skewed X-inactivation, suggesting a mutation on the X-chromosome as the etiology of their POF.

Study Type

Observational

Enrollment (Actual)

13

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Pennsylvania
      • Pittsburgh, Pennsylvania, United States, 15213
        • Magee-Womens Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

20 years to 40 years (Adult)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

Female

Sampling Method

Non-Probability Sample

Study Population

Study population will include women diagnosed with POF through clinics. Women diagnosed with POF may also inquire about this study through the Clinical Trials website.

Description

Inclusion Criteria:

  • Women diagnosed with POF.
  • A chromosomal analysis must have been performed to evaluate X-chromosomal abnormalities, and the results are known to be normal.

Exclusion Criteria:

  • Patients who have a known etiology for their POF and/or an inability to obtain karyotype results for these patients or unknown X-chromosome abnormalities.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Skewed X-Inactivation appears increased in women with Premature Ovarian Failure
Time Frame: 4 years
4 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of Pittsburgh

Investigators

  • Principal Investigator: W. Allen Hogge, MD, University of Pittsburgh and Magee-Womens Hospital

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

November 1, 2005

Primary Completion (Actual)

October 1, 2009

Study Completion (Actual)

October 1, 2009

Study Registration Dates

First Submitted

February 17, 2006

First Submitted That Met QC Criteria

February 17, 2006

First Posted (Estimate)

February 22, 2006

Study Record Updates

Last Update Posted (Estimate)

December 8, 2014

Last Update Submitted That Met QC Criteria

December 5, 2014

Last Verified

December 1, 2014

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 0511043

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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