Pheno- & Genotyping POF (WHO III)

December 10, 2018 updated by: Bart CJM Fauser, UMC Utrecht

Phenotyping and Genotyping of Women Presenting With Ovarian Dysfunction Associated With a Hypergonadotropic Hypo-estrogenic Hormonal Status (WHO III) and Their First and Second Degree Relatives

This study focuses on the phenotyping and genotyping of women with hypergonadotropic ovarian dysfunction (WHO III status).

Study Overview

Status

Unknown

Conditions

Detailed Description

First goal of the study is to phenotype patiens with hypergonadotropic ovarian dysfunction (WHO III) adequately. This group includes women with premature ovarian failure (POF), incipient ovarian failure (IOF), poor response after ovarian hyperstimulation, early menopause and hypergonadotropic primary amenorrhea. The standardized phenotyping consists of a questionnaire focusing on reproductive, medical, and family history; ultrasonography to assess ovarian reserve and/or antral follicle count and obtaining an extra blood sampling during routine endocrine screening for genotyping.

Phenotyping of patients presenting with ovarian dysfunction is of crucial importance when genotyping will be performed. The goal of this genotyping will be the identification of genetic factors associated with the (premature) depletion of the stock of ovarian follicles. It will be performed for isolated WHO III patients in an association (case-control) study for known candidate genes. In familial WHO III cases, genome wide linkage analysis will be performed.

Study Type

Observational

Enrollment (Anticipated)

650

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

10 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

Female

Sampling Method

Non-Probability Sample

Study Population

Women with WHO III status who attend the outpatient clinic of participating hospitals.

Description

Inclusion Criteria:

  • POF; defined as secondary amenorrhea before 40 years of age and basal FSH > 40 IU/L
  • Incipient ovarian failure; defined as normo-ovulatory cycles, raised basal FSH > 12 IU/L
  • Poor response patients; defined as less than 4 oocytes retrieved or cancellation in case of absent follicle growth after ovarian hyperstimulation with 300 IU gonadotropins or cancellation in case of absent follicle growth
  • Women with early menopause (between 40-45 years)
  • Hypergonadotropic primary amenorrhea

Exclusion Criteria:

  • Primary amenorrhea with early development disorders causing absence of ovaries and Swyer syndrome (XY)

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

UMC Utrecht

Collaborators

University Medical Center Groningen
Erasmus Medical Center
Catharina Ziekenhuis Eindhoven
Amsterdam UMC, location VUmc
Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
Leiden University Medical Center
Academisch Ziekenhuis Maastricht
Medical Center Alkmaar
Deventer Ziekenhuis
Isala
Medisch Spectrum Twente
Amphia Hospital
Department of Clinical Pharmacy, University Medical Centre St Radboud, The Netherlands.

Investigators

  • Study Director: Bart CJ Fauser, MD PhD, UMC Utrecht

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

January 1, 2005

Primary Completion (Anticipated)

June 1, 2020

Study Completion (Anticipated)

June 1, 2020

Study Registration Dates

First Submitted

August 5, 2011

First Submitted That Met QC Criteria

August 5, 2011

First Posted (Estimate)

August 8, 2011

Study Record Updates

Last Update Posted (Actual)

December 11, 2018

Last Update Submitted That Met QC Criteria

December 10, 2018

Last Verified

December 1, 2018

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • METC 05-047

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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