Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome
MRKH
Etude de Génétique moléculaire du Syndrome de Mayer-Rokitansky-Kuster-Hauser
1 other identifier
observational
410
1 country
2
Brief 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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started May 2016
Longer than P75 for all trials
2 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
May 1, 2016
CompletedFirst Submitted
Initial submission to the registry
November 14, 2016
CompletedFirst Posted
Study publicly available on registry
November 18, 2016
CompletedPrimary Completion
Last participant's last visit for primary outcome
May 1, 2031
ExpectedStudy Completion
Last participant's last visit for all outcomes
May 1, 2031
October 12, 2018
October 1, 2018
15 years
November 14, 2016
October 10, 2018
Conditions
Outcome Measures
Primary Outcomes (1)
Number of identified nucleotidic variation(s) whose consequences can explain the phenotype of MRKH syndrome
Genetic cause identification
15 years
Study Arms (2)
Patients with MRKH syndrome
Biological samples for patients. Inclusion of patients presenting MRKH syndrome, and who are followed in clinical centres participating in the study.
Healthy relatives
Biological samples for healthy relatives. Inclusion of healthy relatives of patients included in the study (parents, brothers, sisters)
Interventions
Blood samples. Sampling of uterine tissue during surgical intervention (collection of samples for the study only if samples remain after the routine care analyses)
Eligibility Criteria
Recruitment of patients presenting MRKH syndrome, as well as their healthy relatives, in order to perform genetic analyses
You may qualify if:
- 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)
You may not qualify if:
- Refusal to participate in genetic analyses
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (2)
Necker - Enfants malades hospital
Paris, 75015, France
Institut Mutualiste Montsouris
Paris, France
Biospecimen
* Blood samples (for patients and healthy relatives) * Uterine tissue (for patients who have a surgical intervention during their routine follow-up, and only if samples remain available after routine care analyses).
MeSH Terms
Conditions
Study Officials
- STUDY DIRECTOR
Stanislas Lyonnet
Institut Imagine
- PRINCIPAL INVESTIGATOR
Michel Polak
Necker - Enfants malades hospital
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
November 14, 2016
First Posted
November 18, 2016
Study Start
May 1, 2016
Primary Completion (Estimated)
May 1, 2031
Study Completion (Estimated)
May 1, 2031
Last Updated
October 12, 2018
Record last verified: 2018-10
Data Sharing
- IPD Sharing
- Will not share