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Genetic Etiology in Premature Ovarian Insufficiency (POI)

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ClinicalTrials.gov Identifier: NCT01973075
Recruitment Status : Completed
First Posted : October 31, 2013
Last Update Posted : August 11, 2017
Sponsor:
Collaborator:
Istanbul University
Information provided by (Responsible Party):
BEGUM AYDOGAN, Sisli Hamidiye Etfal Training and Research Hospital

October 20, 2013
October 31, 2013
August 11, 2017
November 2013
April 2016   (Final data collection date for primary outcome measure)
Genetic etiology in Premature ovarian Insufficiency [ Time Frame: up to 1 year ]
In the framework of our project, abnormalities on the X chromosome will be studied by karyotyping, follicle-stimulating hormone receptor (FSHR),nuclear receptor subfamily 5,group A,member 1 (NR5A1),Newborn ovary homeobox gene (NOBOX),Bone morphogenetic protein 15 (BMP15) genes will be analyzed by sequencing and finally repeat size analysis for FMR1 gene will be performed fragment analyses, on 75 POI and 25 healthy control population.Collected data will enable us to determine the frequency of the abnormalities and polymorphisms described above in the POI Turkish population. Patients free of those genetic variants will help us to identify new loci or genes implicated in POI.
Same as current
Complete list of historical versions of study NCT01973075 on ClinicalTrials.gov Archive Site
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Genetic Etiology in Premature Ovarian Insufficiency
Genetic Etiology in Premature Ovarian Insufficiency
Premature Ovarian Insufficiency (POI), first described by Albright in 1942, is defined as an increase in Follicle Stimulating Hormone (FSH), an insufficiency of the ovarian function leading to an early menopause (<40 years of age).Today, only 35% of POI's etiology can be explained. Causes enlightening POI may be enumerated as follows, according to their frequency: genetic mutations, autoimmune defects and abnormalities detected on the X chromosome.The purpose of the study is to determine the frequency of the genetic abnormalities and polymorphisms described above in the POI Turkish population
Not Provided
Observational [Patient Registry]
Observational Model: Case-Control
Time Perspective: Cross-Sectional
6 Months
Retention:   Samples With DNA
Description:
4ml whole blood sample
Probability Sample
patients who are admitted to obstetrics and gynecology department
  • Primary Ovarian Insufficiency
  • Genetic Predisposition to Disease
Not Provided
  • premature ovarian Insufficiency
    4ml whole blood sample is going to collect from premature ovarian Insufficiency group for the assessment of genetic abnormalities
  • healthy control group
    4 ml of whole blood is going to taken from healthy control group
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Completed
100
Same as current
April 2017
April 2016   (Final data collection date for primary outcome measure)

Inclusion Criteria:

  • Clinical diagnosed premature ovarian failure patients
  • 20-40 years old female patients

Exclusion Criteria:

  • Surgical surgical menopause
  • Female patients who can't meet the age range criteria
Sexes Eligible for Study: Female
20 Years to 40 Years   (Adult)
Yes
Contact information is only displayed when the study is recruiting subjects
Turkey
 
 
NCT01973075
22547
No
Not Provided
Not Provided
BEGUM AYDOGAN, Sisli Hamidiye Etfal Training and Research Hospital
BEGUM AYDOGAN
Istanbul University
Study Director: Engin Oral, Prof,OBGYN Istanbul University
Sisli Hamidiye Etfal Training and Research Hospital
August 2017