Clinical trial NCT02967822: Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome
Official title: Etude de Génétique moléculaire du Syndrome de Mayer-Rokitansky-Kuster-Hauser
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Mayer Rokitansky Kuster Hauser Syndrome
Lead sponsor: Imagine Institute
Sponsor class: OTHER
Collaborators: name: Reference center for rare diseases (Rare Gynecologic Diseases)
First posted: 2016-11-18
Enrollment: 410
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Recruitment of patients presenting MRKH syndrome, as well as their healthy relatives, in order to perform genetic analyses

Brief summary: 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.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Number of identified nucleotidic variation(s) whose consequences can explain the phenotype of MRKH syndrome
timeFrame: 15 years
Secondary outcomes:
Other outcomes:
Locations:
city: Paris
country: France
facility: Necker - Enfants malades hospital
city: Paris
country: France
facility: Institut Mutualiste Montsouris
Study officials:
affiliation: Institut Imagine
name: Stanislas Lyonnet
role: STUDY_DIRECTOR
affiliation: Necker - Enfants malades hospital
name: Michel Polak
role: PRINCIPAL_INVESTIGATOR
References: