Ignite Creation Date:
2024-05-06 @ 3:45 PM
Last Modification Date:
2024-10-26 @ 1:56 PM
Study NCT ID:
NCT04746053
Status:
COMPLETED
Last Update Posted:
2024-02-15
First Post:
2021-02-04
Brief Title:
Ovarian Function and Gynecological Profile of Patients Carrying a Pathogenic Variant of the HNF1B Gene GYN-HNF1
Sponsor:
University Hospital Toulouse
Organization:
University Hospital Toulouse
Study Overview
Official Title:
Study of Ovarian Function and Gynecological Profile of Patients Carrying a Pathogenic Variant of the HNF1B Gene GYN-HNF1
Status:
COMPLETED
Status Verified Date:
2024-02
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
GYN-HNF1
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
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
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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 2020-A02800-39 | OTHER | ID-RCB | None |