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Pheno- & Genotyping POF (WHO III)

This study is currently recruiting participants.
Verified July 2011 by UMC Utrecht
Sponsor:
Collaborators:
Erasmus Medical Center
Medical Center Alkmaar
University Medical Centre Groningen
Leiden University Medical Center
Medisch Spectrum Twente
Isala Klinieken
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
Information provided by:
UMC Utrecht
ClinicalTrials.gov Identifier:
NCT01411644
First received: August 5, 2011
Last updated: NA
Last verified: July 2011
History: No changes posted
  Purpose

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


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

Study Type: Observational
Study Design: 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

Resource links provided by NLM:

U.S. FDA Resources

Further study details as provided by UMC Utrecht:

Biospecimen Retention:   Samples With DNA

whole blood, serum and litium heparine


Estimated Enrollment: 650
Study Start Date: January 2005
Estimated Study Completion Date: January 2015
Estimated Primary Completion Date: January 2015 (Final data collection date for primary outcome measure)
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.

  Eligibility

Ages Eligible for Study:   12 Years and older
Genders 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.

Criteria

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
Please refer to this study by its ClinicalTrials.gov identifier: NCT01411644

Contacts
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

Locations
Netherlands
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 Centre Groningen
Leiden University Medical Center
Medisch Spectrum Twente
Isala Klinieken
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
Investigators
Study Director: Bart CJ Fauser, MD PhD UMC Utrecht
  More Information

Additional Information:
Click here for more information about this study  This link exits the ClinicalTrials.gov site

Publications:

Responsible Party: Bart CJ Fauser, MD PhD, UMC Utrecht
ClinicalTrials.gov Identifier: NCT01411644     History of Changes
Other Study ID Numbers: METC 05-047
Study First Received: August 5, 2011
Last Updated: August 5, 2011
Health Authority: Netherlands: Medical Ethics Review Committee (METC)

Keywords provided by UMC Utrecht:
POF
IOF
Poor response
early menopause
Primary amenorrhea

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

ClinicalTrials.gov processed this record on May 23, 2013