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Pheno- & Genotyping POF (WHO III)

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ClinicalTrials.gov Identifier: NCT01411644
Recruitment Status : Recruiting
First Posted : August 8, 2011
Last Update Posted : May 16, 2017
Information provided by (Responsible Party):

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

Condition or disease
Premature Ovarian Failure (POF) Incipient Ovarian Failure Poor Response After Ovarian Hyperstimulation Early Menopause Hypergonadotropic Amenorrhea

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 Design

Study Type : Observational
Estimated Enrollment : 650 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: 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
Study Start Date : January 2005
Estimated Primary Completion Date : June 2019
Estimated Study Completion Date : June 2019

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Groups and Cohorts

Outcome Measures

Biospecimen Retention:   Samples With DNA
whole blood, serum and litium heparine

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   12 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Women with WHO III status who attend the outpatient clinic of participating hospitals.

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)
Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01411644

Contact: F. Janse, MD +31 88 75 55555 ext 53629 f.janse@umcutrecht.nl
Contact: A. J. Goverde, MD, PhD +31 88 75 55555 ext 51445 a.j.goverde@umcutrecht.nl

UMC Utrecht Recruiting
Utrecht, Netherlands, 3508 GA
Contact: F Janse, MD    +31 88 755 5555 ext 53629    f.janse@umcutrecht.nl   
Sponsors and Collaborators
UMC Utrecht
Erasmus Medical Center
Medical Center Alkmaar
University Medical Center Groningen
Leiden University Medical Center
Medisch Spectrum Twente
Department of Clinical Pharmacy, University Medical Centre St Radboud, The Netherlands.
Amphia Hospital
Deventer Ziekenhuis
Catharina Ziekenhuis Eindhoven
Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
Academisch Ziekenhuis Maastricht
VU University Medical Center
Study Director: Bart CJ Fauser, MD PhD UMC Utrecht
More Information


Responsible Party: Bart CJM Fauser, professor, UMC Utrecht
ClinicalTrials.gov Identifier: NCT01411644     History of Changes
Other Study ID Numbers: METC 05-047
First Posted: August 8, 2011    Key Record Dates
Last Update Posted: May 16, 2017
Last Verified: May 2017

Keywords provided by Bart CJM Fauser, UMC Utrecht:
Poor response
early menopause
Primary amenorrhea

Additional relevant MeSH terms:
Primary Ovarian Insufficiency
Ovarian Hyperstimulation Syndrome
Menopause, Premature
Ovarian Diseases
Adnexal Diseases
Genital Diseases, Female
Gonadal Disorders
Endocrine System Diseases
Menstruation Disturbances
Pathologic Processes