Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorImagine Institute
About this trial
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.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
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)
Disqualifiers
Refusal to participate in genetic analyses
Participation in a therapeutical clinical study in the 30 days prior to inclusion in the present study.
Trial population
Recruitment of patients presenting MRKH syndrome, as well as their healthy relatives, in order to perform genetic analyses
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Biological samples for patients
GeneticBlood 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
GeneticBlood samples.
Treatment groups
410 Participants
are divided into 2 treatment groupsGroup A: Patients with MRKH syndrome1 intervention
Group B: Healthy relatives1 intervention
Trial outcomes
Primary outcomes
1
Number of identified nucleotidic variation(s) whose consequences can explain the phenotype of MRKH syndrome
Genetic cause identification
Time frame
15 yearsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Imagine Institute
Lead sponsor
Reference center for rare diseases (Rare Gynecologic Diseases)
Collaborator
Source ClinicalTrials.gov