Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH)
Etude de Génétique moléculaire du Syndrome de Mayer-Rokitansky-Kuster-Hauser
In order to understand the molecular mechanisms leading to Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH), the research team has to identify molecular bases of this anomaly.
Toward this goal, the research team would like to include in the study patients with MRKH syndrome, as well as their healthy relatives, in order to perform genetic analyses, especially whole exome sequencing.
This study has been set up in order to collect biological samples from patients with MRKH and their relatives.
Study Overview
Status
Conditions
Intervention / Treatment
Detailed Description
The MRKH is a congenital and rare malformation characterised by the absence of the uterus and of 2/3 of the vagina. The incidence is 1 in 4500 female children (46,XX) and a genetic component has been identified.
In order to understand the molecular mechanisms leading to this disease, the research team has to identify the genetic abnormalities.
This study will be led by the research team of the Imagine Institute and the clinical teams associated with the Reference Center for Rare Diseases PGR (Rare Gynecologic Diseases). Both groups are based on the Necker Hospital campus, and already closely collaborate on research into MRKH syndrome.
This collaboration will allow to :
i) collect biological samples from the propositus and their relatives,
ii) have a medical expertise.
The clinicians involved in the study will recruit patients, whose participation will involve providing a biological sample, ie, a blood sample and/or uterine tissue collected during surgical ablation, in the event that surgery is performed during clinical follow-up of the patients. No specific intervention will be planned for the purposes of this study.
In order to perform genetic analysis on trios, the healthy relatives of the patients (parents, brothers, sisters) will also be included. Blood samples will be taken once for healthy relatives.
Genetic analysis, especially whole exome sequencing, will be performed on blood samples by the research team of Imagine Institute.
Study Type
Enrollment (Anticipated)
Contacts and Locations
Study Contact
- Name: Stanislas Lyonnet
- Phone Number: +33 1 44 49 51 36
- Email: stanislas.lyonnet@inserm.fr
Study Contact Backup
- Name: Anna Pelet
- Phone Number: +33 1 42 75 43 08
- Email: anna.pelet@inserm.fr
Study Locations
-
-
-
Paris, France, 75015
- Recruiting
- Necker - Enfants Malades Hospital
-
Contact:
- Michel Polak
- Email: michel.polak@aphp.fr
-
Contact:
- Magali Viaud
- Email: magali.viaud@aphp.fr
-
Paris, France
- Recruiting
- Institut Mutualiste Montsouris
-
Contact:
- Christine Louis-Sylvestre
- Email: christine.louis-sylvestre@imm.fr
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
Inclusion Criteria:
- Patient with MRKH syndrome OR healthy relative of patient included
- Having signed the Informed consent form (or parents in case of patient under 18 years)
Exclusion Criteria:
- Refusal to participate in genetic analyses
- Participation in a therapeutical clinical study in the 30 days prior to inclusion in the present study.
Study Plan
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Prospective
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
|---|---|
|
Patients with MRKH syndrome
Biological samples for patients. Inclusion of patients presenting MRKH syndrome, and who are followed in clinical centres participating in the study. |
Blood samples.
Sampling of uterine tissue during surgical intervention (collection of samples for the study only if samples remain after the routine care analyses)
|
|
Healthy relatives
Biological samples for healthy relatives. Inclusion of healthy relatives of patients included in the study (parents, brothers, sisters) |
Blood samples.
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
Number of identified nucleotidic variation(s) whose consequences can explain the phenotype of MRKH syndrome
Time Frame: 15 years
|
Genetic cause identification
|
15 years
|
Collaborators and Investigators
Sponsor
Investigators
- Study Director: Stanislas Lyonnet, Institut Imagine
- Principal Investigator: Michel Polak, Necker - Enfants Malades Hospital
Study record dates
Study Major Dates
Study Start
Primary Completion (Anticipated)
Study Completion (Anticipated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- IMNIS2015-06
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.