Mayer Rokitansky Kuster Hauser SyndromeMRKHNCT02967822
Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome
An observational study of Mayer Rokitansky Kuster Hauser Syndrome, run by Imagine Institute at 2 sites in France.
Trial 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… Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Mayer Rokitansky Kuster Hauser Syndrome
- What is being tested?
- Biological samples for patients and Biological samples for healthy relatives
- How many people
- 410 participants
- Where
- 2 sitesFrance
- Study dates
- May 2016to May 2031
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Recruitment of patients presenting MRKH syndrome, as well as their healthy relatives, in order to perform genetic analyses
Who may be able to join
- 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)
Who cannot join
- Refusal to participate in genetic analyses
- Participation in a therapeutical clinical study in the 30 days prior to inclusion in the present study.
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
France2 sites, 2 recruiting
- Recruiting
Necker - Enfants malades hospital
Paris, 75015
Michel Polak, michel.polak@aphp.fr
Magali Viaud, magali.viaud@aphp.fr
- Recruiting
Institut Mutualiste Montsouris
Paris
Christine Louis-Sylvestre, christine.louis-sylvestre@imm.fr
About this study
Official title: Etude de Génétique moléculaire du Syndrome de Mayer-Rokitansky-Kuster-Hauser
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.
Read the detailed description
The MRKH is a congenital and rare malformation characterised by the absence of the uterus and of 2/3 of the vagina. The incidence is 1 in 4500 female children (46,XX) and a genetic component has been identified.
In order to understand the molecular mechanisms leading to this disease, the research team has to identify the genetic abnormalities.
This study will be led by the research team of the Imagine Institute and the clinical teams associated with the Reference Center for Rare Diseases PGR (Rare Gynecologic Diseases). Both groups are based on the Necker Hospital campus, and already closely collaborate on research into MRKH syndrome.
This collaboration will allow to :
- collect biological samples from the propositus and their relatives, ii) have a medical expertise.
The clinicians involved in the study will recruit patients, whose participation will involve providing a biological sample, ie, a blood sample and/or uterine tissue collected during surgical ablation, in the event that surgery is performed during clinical follow-up of the patients. No specific intervention will be planned for the purposes of this study.
In order to perform genetic analysis on trios, the healthy relatives of the patients (parents, brothers, sisters) will also be included. Blood samples will be taken once for healthy relatives.
Genetic analysis, especially whole exome sequencing, will be performed on blood samples by the research team of Imagine Institute.
- Conditions
- Mayer Rokitansky Kuster Hauser Syndrome
- Being tested
- Biological samples for patients, Biological samples for healthy relatives
- Medical subject headings
- Mullerian aplasia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Biological samples for patientsGenetic
Blood samples. Sampling of uterine tissue during surgical intervention (collection of samples for the study only if samples remain after the routine care analyses)
Biological samples for healthy relativesGenetic
Blood samples.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Genetic: Biological samples for patients | |
| Healthy relatives | Biological samples for healthy relatives.
Inclusion of healthy relatives of patients included in the study (parents, brothers, sisters) Receives: Genetic: Biological samples for healthy relatives |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of identified nucleotidic variation(s) whose consequences can explain the phenotype of MRKH syndrome
Genetic cause identification
Measured: 15 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Nov 2016 (estimated)
- Study startMay 2016
- Primary completionMay 2031 (estimated)
- Study completionMay 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mayer Rokitansky Kuster Hauser SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 410 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Imagine Institute
- Sponsor type
- University, hospital or other
- Collaborators
- Reference center for rare diseases (Rare Gynecologic Diseases)
- Responsible party
- Sponsor
- Investigators
- Stanislas Lyonnet, Study director, Institut ImagineMichel Polak, Principal investigator, Necker - Enfants malades hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02967822
- Sponsor's protocol ID
- IMNIS2015-06
- Acronym
- MRKH
- Status last verified
- Oct 2018
- First submitted
- 14 Nov 2016
- Last updated
- 12 Oct 2018
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 12 Oct 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Etude de Génétique moléculaire du Syndrome de Mayer-Rokitansky-Kuster-Hauser
- ClinicalTrials.gov ID
- NCT02967822
- Acronym / sponsor ID
- MRKH / IMNIS2015-06
- Conditions
- Mayer Rokitansky Kuster Hauser Syndrome
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 410 participants (estimated)
- Lead sponsor
- Imagine InstituteUniversity, hospital or other
- Collaborators
- Reference center for rare diseases (Rare Gynecologic Diseases)
- Study start
- May 2016
- Primary completion
- May 2031 (estimated)
- Study completion
- May 2031 (estimated)
- First posted
- 18 Nov 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
The MRKH is a congenital and rare malformation characterised by the absence of the uterus and of 2/3 of the vagina. The incidence is 1 in 4500 female children (46,XX) and a genetic component has been identified.
In order to understand the molecular mechanisms leading to this disease, the research team has to identify the genetic abnormalities.
This study will be led by the research team of the Imagine Institute and the clinical teams associated with the Reference Center for Rare Diseases PGR (Rare Gynecologic Diseases). Both groups are based on the Necker Hospital campus, and already closely collaborate on research into MRKH syndrome.
This collaboration will allow to :
- collect biological samples from the propositus and their relatives, ii) have a medical expertise.
The clinicians involved in the study will recruit patients, whose participation will involve providing a biological sample, ie, a blood sample and/or uterine tissue collected during surgical ablation, in the event that surgery is performed during clinical follow-up of the patients. No specific intervention will be planned for the purposes of this study.
In order to perform genetic analysis on trios, the healthy relatives of the patients (parents, brothers, sisters) will also be included. Blood samples will be taken once for healthy relatives.
Genetic analysis, especially whole exome sequencing, will be performed on blood samples by the research team of Imagine Institute.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients with MRKH syndrome | – | Genetic: Biological samples for patientsBiological samples for patients. Inclusion of patients presenting MRKH syndrome, and who are followed in clinical centres participating in the study. |
| Healthy relatives | – | Genetic: Biological samples for healthy relativesBiological samples for healthy relatives. Inclusion of healthy relatives of patients included in the study (parents, brothers, sisters) |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Recruitment of patients presenting MRKH syndrome, as well as their healthy relatives, in order to perform genetic analyses
Key inclusion criteria (2 listed)
- 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)
Key exclusion criteria (2 listed)
- Refusal to participate in genetic analyses
- Participation in a therapeutical clinical study in the 30 days prior to inclusion in the present study.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Biological samples for patientsBlood samples. Sampling of uterine tissue during surgical intervention (collection of samples for the study only if samples remain after the routine care analyses) | Genetic | Patients with MRKH syndrome |
| Biological samples for healthy relativesBlood samples. | Genetic | Healthy relatives |
Primary outcome
Number of identified nucleotidic variation(s) whose consequences can explain the phenotype of MRKH syndrome
Time frame: 15 years
Genetic cause identification
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Oct 2018.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Stanislas Lyonnet study director
Institut Imagine
Michel Polak principal investigator
Necker - Enfants malades hospital
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Mayer Rokitansky Kuster Hauser Syndrome, run by Imagine Institute at 2 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 12 Oct 2018. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Stanislas Lyonnet (+33 1 44 49 51 36, stanislas.lyonnet@inserm.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of identified nucleotidic variation(s) whose consequences can explain the phenotype of MRKH syndrome (time frame: 15 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Oct 2018.