Mayer Rokitansky Kuster Hauser SyndromeROK-USNCT07321782
Clinical and Imaging Features in MRKH Syndrome
An observational study of Mayer Rokitansky Kuster Hauser Syndrome and Müllerian Agenesis, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 1 site in Italy.
Trial summary
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital condition characterized by uterovaginal agenesis in phenotypically normal women with a 46,XX karyotype. Despite increasing knowledge of its clinical and genetic features, MRKH syndrome shows marked phenotypic heterogeneity, and current classification… Read more about this study
- Who is it for?
- Ages 10 to 60 years, women only
- Conditions the study is for
- Mayer Rokitansky Kuster Hauser Syndrome, Müllerian Agenesis
- How many people
- 25 participants
- Where
- 1 siteItaly
- Study dates
- 12 Jan 2026to 31 Jan 2027
- How long will I take part?
- 12 Months
- 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 10 to 60 years
- Women only
- No healthy volunteers
- Child, Adult
Study population: The study will include female patients aged 10 to 60 years with suspected or previously diagnosed Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, confirmed by a 46,XX karyotype. Both retrospective and prospective patients referred to the 'Female Genital Tract Anomalies' outpatient clinic at the Department of Obstetrics and Gynecology, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy, will be included. Prospective participants will provide informed consent (or parental/guardian consent for minors). Retrospective participants will be included based on previously collected data in compliance with data protection regulations. Patients with other causes of primary amenorrhea or non-46,XX karyotype will be excluded.
Who may be able to join
- Female patients with suspected or previously diagnosed MRKH syndrome
- 46,XX karyotype
- Age 10-60 years
- For prospective patients: signed Informed Consent and Consent to Data Processing (by patient or parent/guardian if minor)
- For retrospective patients: availability of data collected in compliance with Data Protection regulations (DPIA conducted)
Who cannot join
- Patients with other causes of primary amenorrhea (e.g., Androgen Insensitivity Syndrome / Morris syndrome)
- Karyotype different from 46,XX
- For prospective patients: inability to provide informed consent or parental/guardian consent if minor
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Roma, 00168
About this study
Official title: Mayer Rokitansky Kuster Hauser (MRKH) Syndrome: A Monocentric Ambispective Study on Clinical and Ultrasound Findings and Novel Imaging-Based Classification
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital condition characterized by uterovaginal agenesis in phenotypically normal women with a 46,XX karyotype. Despite increasing knowledge of its clinical and genetic features, MRKH syndrome shows marked phenotypic heterogeneity, and current classification systems do not fully reflect the wide spectrum of anatomical presentations encountered in clinical practice.
This ambispective, observational, monocenter study aims to describe the clinical, sonographic, radiological, and genetic characteristics of patients with suspected or confirmed MRKH syndrome referred to a tertiary referral center. All enrolled patients will undergo standardized pelvic ultrasound evaluation, including transabdominal and transrectal approaches, with optional MRI according to clinical indications. Sonovaginography will be performed to objectively assess vaginal length. Genetic investigations, including array CGH and next-generation sequencing, will be conducted as part of routine clinical care.
The primary objective is to characterize the clinical and ultrasound features of MRKH syndrome. Secondary objectives include the development of a novel image-based classification system to better describe disease severity and morphological patterns, validation of sonovaginography for vaginal length measurement, and correlation of genetic alterations with ultrasound-based staging. The study aims to improve diagnostic standardization and contribute to a better understanding of the genotype-phenotype relationship in MRKH syndrome.
- Medical subject headings
- Mullerian aplasia
What is being measured
The primary outcome is the main question the study is designed to answer.
Clinical and ultrasonographic characterization of MRKH syndrome
Description of clinical features and standardized ultrasound findings in patients with Mayer-Rokitansky-Küster-Hauser syndrome, including presence and morphology of uterine remnants, vaginal length, ovarian position and morphology, and associated pelvic or renal anomalies, assessed by transabdominal and transrectal ultrasound.
Measured: Baseline (at enrollment)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Jan 2026
- Study start12 Jan 2026 (estimated)
- Primary completion30 Sep 2026 (estimated)
- Study completion31 Jan 2027 (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.
- More trials run by Fondazione Policlinico Universitario Agostino Gemelli IRCCSThe sponsor's other registered studies.
- 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
- Other
- Enrolment
- 25 participants (estimated)
- Target duration
- 12 Months
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Antonia Carla Testa, Principal investigator, Fondazione Policlinico Universitario Agostino Gemelli IRCCS
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07321782
- Sponsor's protocol ID
- 8153
- Acronym
- ROK-US
- Status last verified
- Dec 2025
- First submitted
- 22 Dec 2025
- Last updated
- 7 Jan 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 7 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Mayer Rokitansky Kuster Hauser (MRKH) Syndrome: A Monocentric Ambispective Study on Clinical and Ultrasound Findings and Novel Imaging-Based Classification
- ClinicalTrials.gov ID
- NCT07321782
- Acronym / sponsor ID
- ROK-US / 8153
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 25 participants (estimated)
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCSUniversity, hospital or other
- Study start
- 12 Jan 2026 (estimated)
- Primary completion
- 30 Sep 2026 (estimated)
- Study completion
- 31 Jan 2027 (estimated)
- First posted
- 7 Jan 2026 (actual)
- 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.
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital condition characterized by uterovaginal agenesis in phenotypically normal women with a 46,XX karyotype. Despite increasing knowledge of its clinical and genetic features, MRKH syndrome shows marked phenotypic heterogeneity, and current classification systems do not fully reflect the wide spectrum of anatomical presentations encountered in clinical practice.
This ambispective, observational, monocenter study aims to describe the clinical, sonographic, radiological, and genetic characteristics of patients with suspected or confirmed MRKH syndrome referred to a tertiary referral center. All enrolled patients will undergo standardized pelvic ultrasound evaluation, including transabdominal and transrectal approaches, with optional MRI according to clinical indications. Sonovaginography will be performed to objectively assess vaginal length. Genetic investigations, including array CGH and next-generation sequencing, will be conducted as part of routine clinical care.
The primary objective is to characterize the clinical and ultrasound features of MRKH syndrome. Secondary objectives include the development of a novel image-based classification system to better describe disease severity and morphological patterns, validation of sonovaginography for vaginal length measurement, and correlation of genetic alterations with ultrasound-based staging. The study aims to improve diagnostic standardization and contribute to a better understanding of the genotype-phenotype relationship in MRKH syndrome.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Target follow-up
- 12 Months
Who may qualify
- Ages
- 10 to 60 years
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- The study will include female patients aged 10 to 60 years with suspected or previously diagnosed Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, confirmed by a 46,XX karyotype. Both retrospective and prospective patients referred to the 'Female Genital Tract Anomalies' outpatient clinic at the Department of Obstetrics and Gynecology, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy, will be included. Prospective participants will provide informed consent (or parental/guardian consent for minors). Retrospective participants will be included based on previously collected data in compliance with data protection regulations. Patients with other causes of primary amenorrhea or non-46,XX karyotype will be excluded.
Key inclusion criteria (5 listed)
- Female patients with suspected or previously diagnosed MRKH syndrome
- 46,XX karyotype
- Age 10-60 years
- For prospective patients: signed Informed Consent and Consent to Data Processing (by patient or parent/guardian if minor)
- For retrospective patients: availability of data collected in compliance with Data Protection regulations (DPIA conducted)
Key exclusion criteria (3 listed)
- Patients with other causes of primary amenorrhea (e.g., Androgen Insensitivity Syndrome / Morris syndrome)
- Karyotype different from 46,XX
- For prospective patients: inability to provide informed consent or parental/guardian consent if minor
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Clinical and ultrasonographic characterization of MRKH syndrome
Time frame: Baseline (at enrollment)
Description of clinical features and standardized ultrasound findings in patients with Mayer-Rokitansky-Küster-Hauser syndrome, including presence and morphology of uterine remnants, vaginal length, ovarian position and morphology, and associated pelvic or renal anomalies, assessed by transabdominal and transrectal ultrasound.
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 7 Jan 2026.
Related trials for Mayer Rokitansky Kuster Hauser Syndrome
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The University of Pennsylvania Uterus Transplant for Uterine Factor Infertility Trial
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Uterine Transplant for Women With Absolute Uterine Factor Infertility (AUFI)
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Evaluation of the Quality of Life and Gynecological Follow-up of Patients Treated for Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome
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Feasibility Study of Uterine Transplantation From Living Donors in Terms of Efficacy and Safety in Patients With Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH)
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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.
Antonia Carla Testa principal investigator
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
1 site 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 and Müllerian Agenesis, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 1 site in Italy.
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 5 inclusion and 3 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: opening soon, as of the sponsor's last update on 7 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. 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 Antonia Carla Testa (+390630155701, antoniacarla.testa@policlinicogemelli.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Clinical and ultrasonographic characterization of MRKH syndrome (time frame: Baseline (at enrollment)). 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 7 Jan 2026.