Informations générales (source: ClinicalTrials.gov)

NCT02967822 En recrutement IDF
Etude de Génétique moléculaire du Syndrome de Mayer-Rokitansky-Kuster-Hauser
Observational
  • Syndrome
  • Troubles du développement sexuel de sujets 46, XX
Imagine Institute (Voir sur ClinicalTrials)
mai 2016
mai 2031
13 septembre 2025
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.
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Etablissements

Les établissements d'Île-de-France dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données
AP-HP - Hôpital Necker-Enfants Malades Michel Polak En recrutement IDF Contact (sur clinicalTrials)
INSTITUT MUTUALISTE MONTSOURIS Christine Louis-Sylvestre En recrutement IDF Contact (sur clinicalTrials)

Critères

Tous
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)



- Refusal to participate in genetic analyses

- Participation in a therapeutical clinical study in the 30 days prior to inclusion in
the present study.