RecruitingNCT02967822

Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome

Etude de Génétique moléculaire du Syndrome de Mayer-Rokitansky-Kuster-Hauser


Sponsor

Imagine Institute

Enrollment

410 participants

Start Date

May 1, 2016

Study Type

OBSERVATIONAL

Conditions

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.


Eligibility

Inclusion Criteria2

  • 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 Criteria2

  • Refusal to participate in genetic analyses
  • Participation in a therapeutical clinical study in the 30 days prior to inclusion in the present study.

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Interventions

GENETICBiological 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)

GENETICBiological samples for healthy relatives

Blood samples.


Locations(2)

Necker - Enfants malades hospital

Paris, France

Institut Mutualiste Montsouris

Paris, France

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NCT02967822


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