Genital Diseases, FemaleGYN-HNF1NCT04746053
Ovarian Function and Gynecological Profile of Patients Carrying a Pathogenic Variant of the HNF1B Gene (GYN-HNF1)
A study testing Pelvic ultrasound and blood sample in people with Genital Diseases, Female, run by University Hospital, Toulouse at 3 sites in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 12 years and older, women only
- Conditions the study is for
- Genital Diseases, Female
- What is being tested?
- Pelvic ultrasound and blood sample
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 26 participants
- Where
- 3 sitesFrance
- Study dates
- 12 Apr 2021to 12 Oct 2023
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 12 years and older
- Women only
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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).
Who cannot join
- 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
Trial locations and contacts
3 sites in 1 country.
France3 sites
Pitié Salpêtrière Hospital -
Paris, 75651
Necker Hospital
Paris, 75743
Toulouse University Hospital
Toulouse, 31059
About this study
Official title: Study of Ovarian Function and Gynecological Profile of Patients Carrying a Pathogenic Variant of the HNF1B Gene (GYN-HNF1)
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.
Read the 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.
- Conditions
- Genital Diseases, Female
- Being tested
- Pelvic ultrasound, blood sample
- Keywords
- gene HNF1b mutation, ovarian function, genital malformations
- Medical subject headings
- Genital Diseases, Female
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Pelvic ultrasoundOther
Pelvic or vaginal ultrasound
blood sampleBiological
blood sample (5ml)
| Study group | Role | What they receive |
|---|---|---|
| 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 Receives: Other: Pelvic ultrasound; Biological: blood sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
serum level of Antimullerian Hormone levels
serum level of antimullerian hormone levels in ng/mL
Measured: day 1
Secondary outcomes (1)
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.
Measured: day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Feb 2021
- Study start12 Apr 2021
- Primary completion12 Oct 2023
- Study completion12 Oct 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Genital Diseases, FemaleStudies of the same condition, open and under way.
- More trials run by University Hospital, ToulouseThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 26 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Toulouse
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Catherine PIENKOWSKI, MD, Principal investigator, University Hospital, Toulouse
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04746053
- Sponsor's protocol ID
- RC31/20/0124
- Other IDs
- 2020-A02800-39
- Acronym
- GYN-HNF1
- Status last verified
- Feb 2024
- First submitted
- 4 Feb 2021
- Last updated
- 15 Feb 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 15930087Lindner 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.
PubMed 10484768Oram 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.
PubMed 20633866
Study at a glance
From the registry record, last updated by the sponsor on 15 Feb 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of Ovarian Function and Gynecological Profile of Patients Carrying a Pathogenic Variant of the HNF1B Gene (GYN-HNF1)
- ClinicalTrials.gov ID
- NCT04746053
- Acronym / sponsor ID
- GYN-HNF1 / RC31/20/0124
- Conditions
- Genital Diseases, Female
- Keywords
- gene HNF1b mutation, ovarian function, genital malformations
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 26 participants (actual)
- Lead sponsor
- University Hospital, ToulouseUniversity, hospital or other
- Study start
- 12 Apr 2021 (actual)
- Primary completion
- 12 Oct 2023 (actual)
- Study completion
- 12 Oct 2023 (actual)
- First posted
- 9 Feb 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| patient with a mutation in the HNF1B gene | Other | Other: Pelvic ultrasound, Biological: blood samplePatient with a mutation in the HNF1B gene and which are followed in the reference centers |
Who may qualify
- Ages
- 12 years and older
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (3 listed)
- 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).
Key exclusion criteria (6 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Pelvic ultrasoundPelvic or vaginal ultrasound | Other | patient with a mutation in the HNF1B gene |
| blood sampleblood sample (5ml) | Biological | patient with a mutation in the HNF1B gene |
Primary outcome
serum level of Antimullerian Hormone levels
Time frame: day 1
serum level of antimullerian hormone levels in ng/mL
1 secondary outcome
ultrasound result
Time frame: day 1
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Feb 2024.
- Background: PubMed 15930087Edghill 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.
- Background: PubMed 10484768Lindner 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.
- Background: PubMed 20633866Oram 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Catherine PIENKOWSKI, MD principal investigator
University Hospital, Toulouse
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Pelvic ultrasound and blood sample in people with Genital Diseases, Female, run by University Hospital, Toulouse at 3 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 15 Feb 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
serum level of Antimullerian Hormone levels (time frame: day 1). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04746053, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Feb 2024.