Understanding the genetics of Polycystic Ovary Syndrome
The Genetics of Polycystic Ovarian Syndrome
This study is trying to find out if certain genes are linked to Polycystic Ovary Syndrome (PCOS) by looking at women with PCOS in Iceland and the U.S. to help improve understanding and treatment of the condition.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 2700 (estimated) |
| Ages | 18 Years and up |
| Sex | Female |
| Sponsor | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) NIH |
| Locations | 1 site (Salt Lake City, Utah) |
| Trial ID | NCT00166569 on ClinicalTrials.gov |
What this trial studies
This study aims to identify the genetic basis of Polycystic Ovary Syndrome (PCOS) by first examining the Icelandic population, which has a unique genealogical database and genetic homogeneity. Researchers will look for specific genes associated with PCOS and then assess whether these genes are also relevant in U.S. patients with the condition. The study will involve female subjects with PCOS who meet specific clinical criteria, and it will explore the relationship between genetic factors and the clinical manifestations of PCOS. The findings could lead to better understanding and management of this common endocrine disorder.
Who should consider this trial
Good fit: Ideal candidates include women aged 18 and older with a diagnosis of PCOS, either currently on hormonal medication or not.
Not a fit: Patients who do not have PCOS or those with significant hormonal or metabolic disorders unrelated to PCOS may not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and treatment options for women suffering from PCOS.
How similar studies have performed: Other studies have shown promise in identifying genetic factors related to PCOS, but this approach focusing on the Icelandic population is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Inclusion Criteria-PCOS Probands: 1) Aged 18 yrs or above 2) Oligomenorrhea or amenorrhea (\<9 menses/yr); 3) clinical and/or biochemical evidence of hyperandrogenemia; 4) normal TSH and prolactin \<25 ng/mL; 5) on no hormonal or insulin sensitizing medication for at least 3 months and have not taken Provera for at least ten days prior to enrollment. If the subject has previously had hormone levels drawn and processed in the Reproductive Endocrine Laboratory, it is not necessary to discontinue hormonal or insulin sensitizing medication. A second group of PCOS probands with a documented diagnosis of PCOS will also be recruited. These subjects will meet all of the criteria above except that they will be on hormonal medication. Inclusion Criteria-Female Unaffected Relatives: 1) Aged at 18 yrs or above; 2) Regular menstrual cycles 21-35 days or history of regular menstrual cycles in the past if menopausal; 3) no clinical or biochemical evidence of hyperandrogenism; 4) normal TSH and prolactin \<25 ng/mL; 5) on no hormonal or insulin sensitizing medication for at least 3 months. Inclusion Criteria-Male Relatives: 1) Aged 18 yrs or above; 2) normal TSH and prolactin \<25 ng/mL; 5) on no hormonal or insulin sensitizing medication for at least 3 months. Inclusion Criteria-Control Subjects: All control subjects will meet the criteria outlined for the female unaffected relatives. In Iceland, control subjects will be recruited from the Icelandic national registry, matched by age and sex to PCOS subjects and their family members. They will otherwise be recruited at random. In Boston, control subjects will be recruited from email and newspaper listings. Exclusion Criteria: * Exclusion Criteria PCOS Probands: Subjects will not have 1) late onset congenital adrenal hyperplasia as defined by a fasting 17OH progesterone level \<200 ng/mL or a cortrosyn stimulated 17 OH progesterone level \<500 ng/mL. Exclusion Criteria (Female unaffected relatives): None. Exclusion Criteria Male Relatives: None. Exclusion Criteria-Control Subjects: Control subjects chosen at random will be excluded if they are already participating in the study as a PCOS subject or are a first degree family member of the PCOS subject.
Where this trial is running
Salt Lake City, Utah
- University of Utah — Salt Lake City, Utah, United States (Recruiting)
Study contacts
- Principal investigator: Corrine Welt, MD
- Study coordinator: Corrine Welt, MD
- Email: cwelt@genetics.utah.edu
- Phone: 801-585-1875
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.