Genetics of Polycystic Ovary Syndrome

This study has been completed.
Sponsor:
Collaborator:
University of Iowa
Information provided by (Responsible Party):
University of Pennsylvania
ClinicalTrials.gov Identifier:
NCT00647335
First received: March 26, 2008
Last updated: May 8, 2013
Last verified: November 2011
  Purpose

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.


Condition
PCOS

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Population Genetics of Polycystic Ovary Syndrome

Resource links provided by NLM:


Further study details as provided by University of Pennsylvania:

Primary Outcome Measures:
  • PCOS gene identification. [ Time Frame: December 2010 ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

Saliva


Enrollment: 189
Study Start Date: February 2008
Study Completion Date: January 2012
Primary Completion Date: January 2012 (Final data collection date for primary outcome measure)
Groups/Cohorts
1
Women with diagnosis of PCOS

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.

  Eligibility

Genders Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Women with a diagnosis of PCOS undergoing treatment at University of Pennsylvania and University of Iowa.

Criteria

Inclusion Criteria:

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

Exclusion Criteria:

  • Healthy women
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00647335

Locations
United States, Pennsylvania
University of Pennsylvania
Philadelphia, Pennsylvania, United States, 19104
Sponsors and Collaborators
University of Pennsylvania
University of Iowa
Investigators
Principal Investigator: Anuja Dokras-Jagasia, MD, PhD University of Pennsylvania
Principal Investigator: Brad V Voorhis, MD University of Iowa
  More Information

No publications provided

Responsible Party: University of Pennsylvania
ClinicalTrials.gov Identifier: NCT00647335     History of Changes
Other Study ID Numbers: 807101, University of IOWA# 200707772
Study First Received: March 26, 2008
Last Updated: May 8, 2013
Health Authority: United States: Institutional Review Board

Additional relevant MeSH terms:
Polycystic Ovary Syndrome
Adnexal Diseases
Cysts
Endocrine System Diseases
Genital Diseases, Female
Gonadal Disorders
Neoplasms
Ovarian Cysts
Ovarian Diseases

ClinicalTrials.gov processed this record on October 30, 2014