Genetics of Polycystic Ovary Syndrome

Completed

• Conditions: PCOS

• Registration Number: NCT00647335
• Lead Sponsor: University of Pennsylvania

Brief Summary

The purpose of this study is to look at genes (DNA) and how they affect health and disease. Genes are the instruction manual for the body. The genes you get from your parents decide what you look like and how your body behaves. They can also tell us a person's risk for certain diseases and how they will respond to treatment. We will collect a saliva sample for genetic research.

Detailed Description

Polycystic ovary syndrome (PCOS) is a common endocrine disorder of women, characterized by elevated levels of male hormones, absent menstruation, infrequent or very light menstruation, and reduced ability to reproduce. Genetic factors likely contribute to the etiology of PCOS, but no genes have been identified with certainty. The findings from these studies will enhance our understanding of the genetics of PCOS, a major contributor to female infertility. Better knowledge of "PCOS genes" will also help in predicting responses to treatments for infertility, insulin resistance, and other aspects of the disease.

Women with PCOS may be eligible to participate in this study if they are between the ages of 18 and 50 and have two living biological parents who are also willing to participate. Study participation involves telephone screening and consent and home collection by subjects (probands) and their parents of sputum (saliva) in a provided container. Specimen containers and signed consent forms will be returned to the study site by mail.

The major goal of this research project, the identification of genes contributing to PCOS, will provide basic understanding of the genotype-phenotype relationships that contribute to features of PCOS. Knowledge of "PCOS genes" would assist physicians in predicting and assessing responses to interventions that promote fertility, improve insulin sensitivity, and treat other aspects of the disease.

Study Timeline

• Study Start: 2008-02
• Study First Submitted: 2008-03-26
• Study First Submitted QC: 2008-03-28
• Study First Posted: 2008-03-31
• Status Verified: 2011-11
• Primary Completion: 2012-01
• Study Completion: 2012-01
• Last Update Submitted: 2013-05-08
• Last Update Posted: 2013-05-13

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Female
• Target Recruitment: 189

Inclusion Criteria

• Diagnosis of PCOS
• Both biological parents alive
• Yes to both answers and parents willing to participate

Exclusion Criteria

• Healthy women

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
PCOS gene identification.	December 2010

Trial Locations

Locations (1)

University of Pennsylvania; 🇺🇸 Philadelphia, Pennsylvania, United States