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
Qualifiers
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 design
Treatments tested in this trial
- Biological samples for patients
- Biological samples for healthy relatives
Treatment groups
410 Participants
are divided into 2 treatment groupsSponsors and collaborators
Imagine Institute
Lead sponsor
Reference center for rare diseases (Rare Gynecologic Diseases)
Collaborator
Source ClinicalTrials.gov