Ovarian Function and Gynecological Profile of Patients Ca... | NCT04746053

Studies
Ovarian Function and Gynecological Profile of Patients Carrying a Pathogenic Variant of the HNF1B Gene (GYN-HNF1)

NCT04746053

Sponsor

University Hospital, Toulouse

Status

Completed

Last Update Posted

Feb 15, 2024Actual

Enrollment

26Actual

Phase

Not Applicable

Conditions

Genital Diseases, Female

Interventions

Pelvic ultrasound
blood sample

Countries

France

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
2020-A02800-39	Other Identifier	ID-RCB

Status Module

Record Verification Date

Feb 2024

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Apr 12, 2021Actual

Primary Completion Date

Oct 12, 2023Actual

Completion Date

Oct 12, 2023Actual

First Submitted Date

Feb 4, 2021

First Submission Date that Met QC Criteria

Feb 4, 2021

First Posted Date

Feb 9, 2021Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Feb 14, 2024

Last Update Posted Date

Feb 15, 2024Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Detailed Description

HNF1B mutations can be responsible for genital malformations associated with renal development abnormalities. HNF1b is also a candidate gene involved in the development of the renal tract and the Mullerian system but there is no data in the literature regarding the ovarian function and clinical gynecological profile of these patients.

The main objective of this study is to study the ovarian function of patients with 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 AMH will be added to the usual balance, whatever the phase of the cycle and a pelvic ultrasound will be performed. 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.

Design Module

Study Type

Interventional

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not Applicable

Interventional Study Design

Allocation

Biospecimen

No data available

No data is available for this block.

Enrollment

26Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
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 ultrasound Biological: blood sample

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Pelvic ultrasound	Other	Pelvic or vaginal ultrasound	patient with a mutation in the HNF1B gene

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
serum level of Antimullerian Hormone levels	serum level of antimullerian hormone levels in ng/mL	day 1

Secondary Outcomes

Measure	Description	Time Frame
ultrasound result	ultrasound (pelvic or vaginal) will allow the team to look at whether or not there is a genital defect and the type of defect.	day 1

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

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.
Free, informed and written consent signed by the participant or her legal representative if a minor patient and the investigator (at the latest on the day of inclusion and before any examination required by the research).

Exclusion Criteria:

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

Accepts Healthy Volunteers

Sex

Female

Sex/Gender Based

Yes

Sex/Gender Description

Not provided

Minimum Age

12 Years

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Not provided

Sampling Method

Not provided

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Catherine PIENKOWSKI, MD	University Hospital, Toulouse	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Pitié Salpêtrière Hospital -		Paris		75651	France
Necker Hospital

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
15930087	Background	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.
10484768	Background	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.

ID	Term
D052776	Female Urogenital Diseases
D005261	Female Urogenital Diseases and Pregnancy Complications
D000091642	Urogenital Diseases
D000091662	Genital Diseases

ID	Term
D013048	Specimen Handling
D019411	Clinical Laboratory Techniques
D019937	Diagnostic Techniques and Procedures
D003933	Diagnosis