Trial record 4 of 43 for:    Open Studies | "Primary Ovarian Insufficiency"

Genetic Etiology in Premature Ovarian Insufficiency (POI)

This study is currently recruiting participants. (see Contacts and Locations)
Verified October 2013 by Sisli Etfal Training & Research Hospital
Sponsor:
Collaborator:
Istanbul University
Information provided by (Responsible Party):
BEGUM AYDOGAN, Sisli Etfal Training & Research Hospital
ClinicalTrials.gov Identifier:
NCT01973075
First received: October 20, 2013
Last updated: March 18, 2014
Last verified: October 2013
  Purpose

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


Condition
Primary Ovarian Insufficiency
Genetic Predisposition to Disease

Study Type: Observational [Patient Registry]
Study Design: Observational Model: Case Control
Time Perspective: Cross-Sectional
Target Follow-Up Duration: 6 Months
Official Title: Genetic Etiology in Premature Ovarian Insufficiency

Resource links provided by NLM:


Further study details as provided by Sisli Etfal Training & Research Hospital:

Primary Outcome Measures:
  • Genetic etiology in Premature ovarian Insufficiency [ Time Frame: up to 1 year ] [ Designated as safety issue: No ]
    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.


Biospecimen Retention:   Samples With DNA

4ml whole blood sample


Estimated Enrollment: 100
Study Start Date: November 2013
Estimated Study Completion Date: November 2014
Estimated Primary Completion Date: November 2014 (Final data collection date for primary outcome measure)
Groups/Cohorts
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

  Eligibility

Ages Eligible for Study:   20 Years to 40 Years
Genders Eligible for Study:   Female
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population

patients who are admitted to obstetrics and gynecology department

Criteria

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
  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: NCT01973075

Contacts
Contact: begum aydogan, MD,OBGYN 905063025896 begum_aydogan@hotmail.com

Locations
Turkey
Istanbul University Cerrahpasa Medical school Obstetrics department Recruiting
Istanbul, Turkey
Contact: Engin Oral, Prof,OBGYN    00902124143000 ext 21414    eoral@superonline.com   
Sub-Investigator: begum aydogan, MD,OBGYN         
Principal Investigator: Engin Oral, Prof,OBGYN         
Sub-Investigator: Seher Basaran, Prof         
Sub-Investigator: Oya Uyguner, PROF         
Sponsors and Collaborators
BEGUM AYDOGAN
Istanbul University
Investigators
Study Director: Engin Oral, Prof,OBGYN Istanbul University
  More Information

No publications provided

Responsible Party: BEGUM AYDOGAN, MD,OBGYN, Sisli Etfal Training & Research Hospital
ClinicalTrials.gov Identifier: NCT01973075     History of Changes
Other Study ID Numbers: 22547
Study First Received: October 20, 2013
Last Updated: March 18, 2014
Health Authority: Turkey: Ethics Committee

Keywords provided by Sisli Etfal Training & Research Hospital:
Premature Ovarian Insufficiency (POI)

Additional relevant MeSH terms:
Primary Ovarian Insufficiency
Gonadal Dysgenesis
Turner Syndrome
Disease Susceptibility
Genetic Predisposition to Disease
Menopause, Premature
Disease Attributes
Pathologic Processes
Ovarian Diseases
Adnexal Diseases
Genital Diseases, Female
Gonadal Disorders
Endocrine System Diseases
Disorders of Sex Development
Urogenital Abnormalities
Congenital Abnormalities
Sex Chromosome Disorders of Sex Development
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Sex Chromosome Disorders
Chromosome Disorders
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on September 18, 2014