X-Chromosome Inactivation Status and Premature Ovarian Failure

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00295087
Recruitment Status : Completed
First Posted : February 22, 2006
Last Update Posted : December 8, 2014
Information provided by (Responsible Party):
University of Pittsburgh

Brief Summary:
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.

Condition or disease
Premature Ovarian Failure

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
Actual Enrollment : 13 participants
Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: X-Chromosome Inactivation Status and Premature Ovarian Failure
Study Start Date : November 2005
Actual Primary Completion Date : October 2009
Actual Study Completion Date : October 2009

Resource links provided by the National Library of Medicine

Primary Outcome Measures :
  1. Skewed X-Inactivation appears increased in women with Premature Ovarian Failure [ Time Frame: 4 years ]

Biospecimen Retention:   Samples With DNA
DNA that is extracted from the blood specimen

Information from the National Library of Medicine

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Ages Eligible for Study:   20 Years to 40 Years   (Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   Yes
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.

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00295087

United States, Pennsylvania
Magee-Womens Hospital
Pittsburgh, Pennsylvania, United States, 15213
Sponsors and Collaborators
University of Pittsburgh
Principal Investigator: W. Allen Hogge, MD University of Pittsburgh and Magee-Womens Hospital

Responsible Party: University of Pittsburgh Identifier: NCT00295087     History of Changes
Other Study ID Numbers: 0511043
First Posted: February 22, 2006    Key Record Dates
Last Update Posted: December 8, 2014
Last Verified: December 2014

Keywords provided by University of Pittsburgh:
Premature Ovarian Failure
X-Chromosome Inactivation

Additional relevant MeSH terms:
Premature Birth
Primary Ovarian Insufficiency
Menopause, Premature
Obstetric Labor, Premature
Obstetric Labor Complications
Pregnancy Complications
Ovarian Diseases
Adnexal Diseases
Genital Diseases, Female
Gonadal Disorders
Endocrine System Diseases