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

NCT02967822 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 410

Last updated 2018-10-12

No results posted yet for this study

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.

Conditions

  • Mayer Rokitansky Kuster Hauser Syndrome

Interventions

GENETIC

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)

GENETIC

Biological samples for healthy relatives

Blood samples.

Sponsors & Collaborators

  • Reference center for rare diseases (Rare Gynecologic Diseases)

    collaborator UNKNOWN

  • Imagine Institute

    lead OTHER

Principal Investigators

  • Stanislas Lyonnet · Institut Imagine

  • Michel Polak · Necker - Enfants malades hospital

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2016-05-31
Primary Completion
2031-05-31
Completion
2031-05-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02967822 on ClinicalTrials.gov