Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome

Mayer Rokitansky Kuster Hauser Syndrome Clinical Trial

— MRKH  

Official title:

Etude de Génétique moléculaire du Syndrome de Mayer-Rokitansky-Kuster-Hauser

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02967822
• Other study ID #: IMNIS2015-06
• Status: Recruiting
• Start date: May 2016
• Est. completion date: May 2031

Study information

• Verified date: October 2018
• Source: Imagine Institute
• Contact: Stanislas Lyonnet
• Phone: +33 1 44 49 51 36
• Email: stanislas.lyonnet[@]inserm.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 410
• Est. completion date: May 2031
• Est. primary completion date: May 2031
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Mayer Rokitansky Kuster Hauser Syndrome
• Syndrome

Intervention

Genetic:
• Biological samples for patients
Blood samples. Sampling of uterine tissue during surgical intervention (collection of samples for the study only if samples remain after the routine care analyses)
• Biological samples for healthy relatives
Blood samples.

Locations

Country	Name	City	State
France	Institut Mutualiste Montsouris	Paris
France	Necker - Enfants malades hospital	Paris

Sponsors (2)

Lead Sponsor	Collaborator
Imagine Institute	Reference center for rare diseases (Rare Gynecologic Diseases)

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of identified nucleotidic variation(s) whose consequences can explain the phenotype of MRKH syndrome	Genetic cause identification	15 years