Status:
COMPLETED
Ovarian Function and Gynecological Profile of Patients Carrying a Pathogenic Variant of the HNF1B Gene (GYN-HNF1)
Lead Sponsor:
University Hospital, Toulouse
Conditions:
Genital Diseases, Female
Eligibility:
FEMALE
12+ years
Phase:
NA
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 Universi...
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 Mull...
Eligibility Criteria
Inclusion
- 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
- 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
Key Trial Info
Start Date :
April 12 2021
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
October 12 2023
Estimated Enrollment :
26 Patients enrolled
Trial Details
Trial ID
NCT04746053
Start Date
April 12 2021
End Date
October 12 2023
Last Update
February 15 2024
Active Locations (3)
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1
Pitié Salpêtrière Hospital -
Paris, France, 75651
2
Necker Hospital
Paris, France, 75743
3
Toulouse University Hospital
Toulouse, France, 31059