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Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH)

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ClinicalTrials.gov Identifier: NCT02967822
Recruitment Status : Recruiting
First Posted : November 18, 2016
Last Update Posted : October 12, 2018
Sponsor:
Collaborator:
Reference center for rare diseases (Rare Gynecologic Diseases)
Information provided by (Responsible Party):
Imagine Institute

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.


Condition or disease Intervention/treatment
Mayer Rokitansky Kuster Hauser Syndrome Genetic: Biological samples for patients Genetic: Biological samples for healthy 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.


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Study Type : Observational
Estimated Enrollment : 410 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Etude de Génétique moléculaire du Syndrome de Mayer-Rokitansky-Kuster-Hauser
Study Start Date : May 2016
Estimated Primary Completion Date : May 2031
Estimated Study Completion Date : May 2031

Resource links provided by the National Library of Medicine


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.

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)

Healthy relatives

Biological samples for healthy relatives.

Inclusion of healthy relatives of patients included in the study (parents, brothers, sisters)

Genetic: Biological samples for healthy relatives
Blood samples.




Primary Outcome Measures :
  1. Number of identified nucleotidic variation(s) whose consequences can explain the phenotype of MRKH syndrome [ Time Frame: 15 years ]
    Genetic cause identification


Biospecimen Retention:   Samples With DNA
  • Blood samples (for patients and healthy relatives)
  • Uterine tissue (for patients who have a surgical intervention during their routine follow-up, and only if samples remain available after routine care analyses).


Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
Recruitment of patients presenting MRKH syndrome, as well as their healthy relatives, in order to perform genetic analyses
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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02967822


Contacts
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Contact: Stanislas Lyonnet +33 1 44 49 51 36 stanislas.lyonnet@inserm.fr
Contact: Anna Pelet +33 1 42 75 43 08 anna.pelet@inserm.fr

Locations
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France
Necker - Enfants malades hospital Recruiting
Paris, France, 75015
Contact: Michel Polak       michel.polak@aphp.fr   
Contact: Magali Viaud       magali.viaud@aphp.fr   
Institut Mutualiste Montsouris Recruiting
Paris, France
Contact: Christine Louis-Sylvestre       christine.louis-sylvestre@imm.fr   
Sponsors and Collaborators
Imagine Institute
Reference center for rare diseases (Rare Gynecologic Diseases)
Investigators
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Study Director: Stanislas Lyonnet Institut Imagine
Principal Investigator: Michel Polak Necker - Enfants malades hospital

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Responsible Party: Imagine Institute
ClinicalTrials.gov Identifier: NCT02967822     History of Changes
Other Study ID Numbers: IMNIS2015-06
First Posted: November 18, 2016    Key Record Dates
Last Update Posted: October 12, 2018
Last Verified: October 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Additional relevant MeSH terms:
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Syndrome
46, XX Disorders of Sex Development
Disease
Pathologic Processes
Disorders of Sex Development
Urogenital Abnormalities
Congenital Abnormalities
Gonadal Disorders
Endocrine System Diseases