NCT04746053

Brief Summary

The main objective of this study is to study the ovarian function of patients with hepatocyte nuclear factor-1beta (HNF1B) abnormality, followed in the reference centers of Toulouse and Paris University Hospitals. The secondary objectives are to know the gynecological profile of these patients. A dosage of anti-mullerian hormone (AMH) will be added to the usual balance, whatever the phase of the cycle and a pelvic ultrasound will be performed by the same operator by center. Patients will be received in a dedicated consultation to complete a questionnaire on gynecological and obstetric history, as well as their personal and family history. There will be no gynecological examination during this consultation.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
26

participants targeted

Target at below P25 for not_applicable

Timeline
Completed

Started Apr 2021

Typical duration for not_applicable

Geographic Reach
1 country

3 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

February 4, 2021

Completed
5 days until next milestone

First Posted

Study publicly available on registry

February 9, 2021

Completed
2 months until next milestone

Study Start

First participant enrolled

April 12, 2021

Completed
2.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

October 12, 2023

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

October 12, 2023

Completed
Last Updated

February 15, 2024

Status Verified

February 1, 2024

Enrollment Period

2.5 years

First QC Date

February 4, 2021

Last Update Submit

February 14, 2024

Conditions

Genital Diseases, Female

Keywords

gene HNF1b mutationovarian functiongenital malformations

Outcome Measures

Primary Outcomes (1)

  • serum level of Antimullerian Hormone levels

    serum level of antimullerian hormone levels in ng/mL

    day 1

Secondary Outcomes (1)

  • ultrasound result

    day 1

Study Arms (1)

patient with a mutation in the HNF1B gene

OTHER

Patient with a mutation in the HNF1B gene and which are followed in the reference centers

Other: Pelvic ultrasoundBiological: blood sample

Interventions

Pelvic ultrasoundOTHER

Pelvic or vaginal ultrasound

patient with a mutation in the HNF1B gene
blood sampleBIOLOGICAL

blood sample (5ml)

patient with a mutation in the HNF1B gene

Eligibility Criteria

Age12 Years+
Sexfemale(Gender-based eligibility)
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • Girls from 12 years of age carrying a pathogenic variant of the HNF1 B gene and monitored in the reference center for rare renal diseases
  • Person affiliated or beneficiary of a social security scheme.

You may not qualify if:

  • Woman unable to answer
  • Pregnant or breastfeeding woman
  • Refusal of participation by the patient or her legal representative
  • Person under a protection system for adults (such as safeguard of justice, guardianship or curatorship)
  • History of chemotherapy, radiotherapy, brachytherapy
  • History of ovarian endometrium

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (3)

Pitié Salpêtrière Hospital -

Paris, 75651, France

Location

Necker Hospital

Paris, 75743, France

Location

Toulouse University Hospital

Toulouse, 31059, France

Location

Related Publications (3)

  • Edghill EL, Bingham C, Ellard S, Hattersley AT. Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. J Med Genet. 2006 Jan;43(1):84-90. doi: 10.1136/jmg.2005.032854. Epub 2005 Jun 1.

    PMID: 15930087BACKGROUND

  • Lindner TH, Njolstad PR, Horikawa Y, Bostad L, Bell GI, Sovik O. A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta. Hum Mol Genet. 1999 Oct;8(11):2001-8. doi: 10.1093/hmg/8.11.2001.

    PMID: 10484768BACKGROUND

  • Oram RA, Edghill EL, Blackman J, Taylor MJ, Kay T, Flanagan SE, Ismail-Pratt I, Creighton SM, Ellard S, Hattersley AT, Bingham C. Mutations in the hepatocyte nuclear factor-1beta (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations. Am J Obstet Gynecol. 2010 Oct;203(4):364.e1-5. doi: 10.1016/j.ajog.2010.05.022. Epub 2010 Jul 15.

    PMID: 20633866BACKGROUND

MeSH Terms

Conditions

Genital Diseases, Female

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Female Urogenital DiseasesFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesGenital Diseases

Intervention Hierarchy (Ancestors)

Specimen HandlingClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisPuncturesSurgical Procedures, OperativeInvestigative Techniques

Study Officials

  • Catherine PIENKOWSKI, MD

    University Hospital, Toulouse

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
OTHER
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

February 4, 2021

First Posted

February 9, 2021

Study Start

April 12, 2021

Primary Completion

October 12, 2023

Study Completion

October 12, 2023

Last Updated

February 15, 2024

Record last verified: 2024-02

Data Sharing

IPD Sharing
Will not share

Locations

FR(3)