Pheno- & Genotyping POF (WHO III)

Premature Ovarian Failure (POF) Clinical Trial

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT01411644
• Other study ID #: METC 05-047
• Status: Recruiting
• Start date: January 2005
• Est. completion date: June 2020

Study information

• Verified date: December 2018
• Source: UMC Utrecht
• Contact: F. Janse, MD
• Phone: +31 88 75 55555
• Email: f.janse[@]umcutrecht.nl
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 650
• Est. completion date: June 2020
• Est. primary completion date: June 2020
• Accepts healthy volunteers: No
• Gender: Female
• Age group: 12 Years and older

Eligibility

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)

Related Conditions & MeSH terms

• Amenorrhea
• Early Menopause
• Hypergonadotropic Amenorrhea
• Incipient Ovarian Failure
• Menopause, Premature
• Ovarian Hyperstimulation Syndrome
• Poor Response After Ovarian Hyperstimulation
• Premature Ovarian Failure (POF)
• Primary Ovarian Insufficiency

Locations

Country	Name	City	State
Netherlands	UMC Utrecht	Utrecht

Sponsors (14)

Lead Sponsor

Collaborator

UMC Utrecht

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

Country where clinical trial is conducted

Netherlands, 

References & Publications (5)

Janse F, Knauff EA, Niermeijer MF, Eijkemans MJ, Laven JS, Lambalk CB, Fauser BC, Goverde AJ; Dutch Premature Ovarian Failure Consortium. Similar phenotype characteristics comparing familial and sporadic premature ovarian failure. Menopause. 2010 Jul;17(4 — View Citation

Knauff EA, Blauw HM, Pearson PL, Kok K, Wijmenga C, Veldink JH, van den Berg LH, Bouchard P, Fauser BC, Franke L; Dutch Primary Ovarian Insufficiency Consortium. Copy number variants on the X chromosome in women with primary ovarian insufficiency. Fertil — View Citation

Knauff EA, Eijkemans MJ, Lambalk CB, ten Kate-Booij MJ, Hoek A, Beerendonk CC, Laven JS, Goverde AJ, Broekmans FJ, Themmen AP, de Jong FH, Fauser BC; Dutch Premature Ovarian Failure Consortium. Anti-Mullerian hormone, inhibin B, and antral follicle count — View Citation

Knauff EA, Franke L, van Es MA, van den Berg LH, van der Schouw YT, Laven JS, Lambalk CB, Hoek A, Goverde AJ, Christin-Maitre S, Hsueh AJ, Wijmenga C, Fauser BC; Dutch POF Consortium. Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene. Hum Reprod. 2009 Sep;24(9):2372-8. doi: 10.1093/humrep/dep197. Epub 2009 Jun 9. — View Citation

Knauff EA, Westerveld HE, Goverde AJ, Eijkemans MJ, Valkenburg O, van Santbrink EJ, Fauser BC, van der Schouw YT. Lipid profile of women with premature ovarian failure. Menopause. 2008 Sep-Oct;15(5):919-23. doi: 10.1097/gme.0b013e31816b4509. — View Citation