Understanding the genetic causes of Mayer-Rokitansky-Kuster-Hauser syndrome
Etude de Génétique moléculaire du Syndrome de Mayer-Rokitansky-Kuster-Hauser
Imagine Institute · NCT02967822
This study is trying to find out the genetic causes of Mayer-Rokitansky-Kuster-Hauser syndrome by looking at blood samples from patients and their healthy family members.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 410 (estimated) |
| Sex | All |
| Sponsor | Imagine Institute (other) |
| Locations | 2 sites (Paris and 1 other locations) |
| Trial ID | NCT02967822 on ClinicalTrials.gov |
What this trial studies
This observational study aims to identify the molecular mechanisms behind Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) by collecting biological samples from patients with MRKH and their healthy relatives. The research team will perform genetic analyses, particularly whole exome sequencing, to uncover genetic abnormalities associated with this rare condition. Participants will provide blood samples, and if applicable, uterine tissue during surgical procedures. The collaboration between the Imagine Institute and the Reference Center for Rare Diseases will enhance the medical expertise and support for this research.
Who should consider this trial
Good fit: Ideal candidates include patients diagnosed with MRKH syndrome and their healthy relatives.
Not a fit: Patients who refuse to participate in genetic analyses or are currently involved in other therapeutic clinical studies may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to a better understanding of MRKH syndrome and potentially inform future genetic counseling and treatment options for affected individuals.
How similar studies have performed: Other studies focusing on genetic analyses of rare syndromes have shown promise, suggesting that this approach could yield valuable insights into MRKH syndrome.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Paris and 1 other locations
- Necker - Enfants malades hospital — Paris, France (RECRUITING)
- Institut Mutualiste Montsouris — Paris, France (RECRUITING)
Study contacts
- Principal investigator: Michel Polak — Necker - Enfants malades hospital
- Study coordinator: Stanislas Lyonnet
- Email: stanislas.lyonnet@inserm.fr
- Phone: +33 1 44 49 51 36
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Mayer Rokitansky Kuster Hauser Syndrome