Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome (NCT02967822) | Clinical Trial Compass
RecruitingNot Applicable
Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome
France410 participantsStarted 2016-05
Plain-language 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.
Who can participate
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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)
Exclusion Criteria:
* Refusal to participate in genetic analyses
* Participation in a therapeutical clinical study in the 30 days prior to inclusion in the present study.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Number of identified nucleotidic variation(s) whose consequences can explain the phenotype of MRKH syndrome