---
title: Genetics of Polycystic Ovary Syndrome
nct_id: NCT00647335
overall_status: COMPLETED
sponsor: University of Pennsylvania
study_type: OBSERVATIONAL
primary_condition: PCOS
countries: United States
canonical_url: "https://parkinsonspathways.com/agent/trials/NCT00647335.md"
clinicaltrials_gov: "https://clinicaltrials.gov/study/NCT00647335"
ct_last_update_post_date: 2013-05-13
last_seen_at: "2026-05-12T06:00:17.676Z"
source: ClinicalTrials.gov (mirrored, no enrichment)
---
# Genetics of Polycystic Ovary Syndrome

**Official Title:** Population Genetics of Polycystic Ovary Syndrome

**NCT ID:** [NCT00647335](https://clinicaltrials.gov/study/NCT00647335)

## Key Facts

- **Status:** COMPLETED
- **Study Type:** OBSERVATIONAL
- **Target Enrollment:** 189
- **Lead Sponsor:** University of Pennsylvania
- **Collaborators:** University of Iowa
- **Conditions:** PCOS
- **Start Date:** 2008-02
- **Completion Date:** 2012-01
- **CT.gov Last Update:** 2013-05-13

## 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.

## Eligibility

- **Sex:** FEMALE
- **Healthy Volunteers:** No

```
Inclusion Criteria:

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

Exclusion Criteria:

* Healthy women
```

## Arms

- **1** — Women with diagnosis of PCOS

## Primary Outcomes

- **PCOS gene identification.** _(time frame: December 2010)_

## Locations (1)

- University of Pennsylvania, Philadelphia, Pennsylvania, United States

## Recent Field Changes (last 30 days)

- `status.overallStatus` — added _(2026-05-12)_
- `status.primaryCompletionDate` — added _(2026-05-12)_
- `status.completionDate` — added _(2026-05-12)_
- `status.lastUpdatePostDate` — added _(2026-05-12)_
- `design.enrollmentCount` — added _(2026-05-12)_
- `eligibility.criteria` — added _(2026-05-12)_
- `eligibility.sex` — added _(2026-05-12)_
- `outcomes.primary` — added _(2026-05-12)_
- `armsInterventions.arms` — added _(2026-05-12)_
- `sponsor.lead` — added _(2026-05-12)_
- `sponsor.collaborators` — added _(2026-05-12)_
- `results.hasResults` — added _(2026-05-12)_
- `locations.university of pennsylvania|philadelphia|pennsylvania|united states` — added _(2026-05-12)_

---

*Canonical: https://parkinsonspathways.com/agent/trials/NCT00647335.md*  
*Source data (authoritative): https://clinicaltrials.gov/study/NCT00647335*  
*This page is a raw mirror with no AI summary, no editorial enrichment, and no Parkinson's-specific filtering.*