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Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome
Sponsor: Imagine Institute
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.
Official title: Etude de Génétique moléculaire du Syndrome de Mayer-Rokitansky-Kuster-Hauser
Key Details
Gender
All
Age Range
Any - Any
Study Type
OBSERVATIONAL
Enrollment
410
Start Date
2016-05
Completion Date
2031-05
Last Updated
2018-10-12
Healthy Volunteers
Yes
Conditions
Interventions
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 (2)
Necker - Enfants malades hospital
Paris, France
Institut Mutualiste Montsouris
Paris, France