Ignite Creation Date:
2024-05-05 @ 11:54 AM
Last Modification Date:
2024-10-26 @ 9:15 AM
Study NCT ID:
NCT00166569
Status:
RECRUITING
Last Update Posted:
2020-03-03
First Post:
2005-09-09
Brief Title:
The Genetics of Polycystic Ovarian Syndrome
Sponsor:
Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD
Organization:
Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD
Study Overview
Official Title:
The Genetics of Polycystic Ovarian Syndrome
Status:
RECRUITING
Status Verified Date:
2020-03
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
The goal of this study is to determine the genetic basis of polycystic ovary syndrome PCOS We will first look for genes in the Icelandic population where large family trees are known and it is easier to search for genes We will then determine whether these same genes are important in US PCOS patients
Detailed Description:
Polycystic Ovary Syndrome PCOS is one of the most common endocrine disorders in women Its marked phenotypic variability puzzling list of associated conditions and hence potential risk to a womans health over her lifecycle clearly remain a clinical investigational genetic and therapeutic challenge To a great extent this variability can be attributed to the marked genetic and environmental heterogeneity of the populations studied We plan to address many of these long-term clinical research obstacles by delineating the genetic basis of PCOS in a unique investigational venue the Icelandic population Studying the Icelandic population has the following advantages a the populations relative genetic and environmental homogeneity b the remarkably rich genealogic database and c the centralized healthcare information In this unusual venue clustering of large numbers of PCOS families with known relationships is possible Their relative homogeneity and genealogic characteristics can reduce genetic variance and hence be used to map the genetic basis for PCOS more efficiently than in more heterogeneous populations As the genes responsible for PCOS emerge this protocol will also determine phenotypegenotype correlations in Iceland contrasting them with US women and assess their long-term medical consequences
Each female subject will be asked to arrive fasting in the morning Women with PCOS will be asked to arrive at least 10 days from their last menstrual period while women with regular menstrual cycles will be seen within the first 14 days after their menstrual period starts All subjects will be asked to fill out an extensive questionnaire Subjects will then undergo further history physical exam and laboratory exams Blood will be drawn at baseline for DNA the material in the cell that holds the genes fasting blood glucose and insulin HbA1C total and fractionated cholesterol triglycerides testosterone androstenedione DHEAS SHBG and 17-OH Progesterone Additional blood will be drawn at 10 and 20 minutes for measurement of LH and FSH which are pulsatile An oral glucose tolerance test will be optional A standardized transvaginal ultrasound will be performed to look at the ovaries in all female subjects This can be done over the abdomen with a full bladder if the patient prefers
Male family members will also undergo a history physical and laboratory exams in an identical manner to that of their female family members with the addition that specific notice of their hair distribution will be made PCOS subjects who are on oral contraceptives or other hormonal medication may have cholesterol insulin glucose triglycerides and HbA1C labs drawn whereas subjects on insulin sensitizing agents will not have any blood drawn for these tests These subjects will undergo an ultrasound and DNA sampling
All hormone blood samples from Icelandic and Boston subjects will be examined in Boston All DNA testing will be performed in the Genotyping Core of deCODE a company in Iceland Therefore all DNA samples from Iceland and Boston will be analyzed in Iceland The Boston blood samples will be coded and sent to the DeCODE genotyping facility The investigators in Boston will retain the link between the code and the subject information in a locked area in the office The names of subjects will not be disclosed to deCODE
Each female subject will be asked to arrive fasting in the morning Women with PCOS will be asked to arrive at least 10 days from their last menstrual period while women with regular menstrual cycles will be seen within the first 14 days after their menstrual period starts All subjects will be asked to fill out an extensive questionnaire Subjects will then undergo further history physical exam and laboratory exams Blood will be drawn at baseline for DNA the material in the cell that holds the genes fasting blood glucose and insulin HbA1C total and fractionated cholesterol triglycerides testosterone androstenedione DHEAS SHBG and 17-OH Progesterone Additional blood will be drawn at 10 and 20 minutes for measurement of LH and FSH which are pulsatile An oral glucose tolerance test will be optional A standardized transvaginal ultrasound will be performed to look at the ovaries in all female subjects This can be done over the abdomen with a full bladder if the patient prefers
Male family members will also undergo a history physical and laboratory exams in an identical manner to that of their female family members with the addition that specific notice of their hair distribution will be made PCOS subjects who are on oral contraceptives or other hormonal medication may have cholesterol insulin glucose triglycerides and HbA1C labs drawn whereas subjects on insulin sensitizing agents will not have any blood drawn for these tests These subjects will undergo an ultrasound and DNA sampling
All hormone blood samples from Icelandic and Boston subjects will be examined in Boston All DNA testing will be performed in the Genotyping Core of deCODE a company in Iceland Therefore all DNA samples from Iceland and Boston will be analyzed in Iceland The Boston blood samples will be coded and sent to the DeCODE genotyping facility The investigators in Boston will retain the link between the code and the subject information in a locked area in the office The names of subjects will not be disclosed to deCODE
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None