Congenital Uterine AnomalyNCT04661072
Congenital Uterine Anomalies: Identifying Cancer Associations and Genetic and Environmental Factors to Improve Clinical Care
An observational study of Congenital Uterine Anomaly, run by Yale University at 1 site in United States.
Trial summary
The purpose of this research study is to learn more about the health outcomes associated with congenital uterine anomalies (CUAs), and the possible environmental and genetic causes of the condition. Read more about this study
- Who is it for?
- Ages 13 years and older, women only
- Conditions the study is for
- Congenital Uterine Anomaly
- How many people
- 300 participants
- Where
- 1 siteUnited States
- Study dates
- 14 Jul 2021to Aug 2027
- 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 13 years and older
- Women only
- No healthy volunteers
- Child, Adult, Older adult
Study population: Women and girls who have received care within the Yale New Haven Health system and have a CUA diagnosis Anticipated number - approximately 300 subjects Age range - from 13 years old and older Health status - able to participate in consent and assent (based on age) process
Who may be able to join
- females
- age: 13 or older
- encounters limited to: Yale New Haven Hospital, Bridgeport Hospital, Greenwich Hospital and Lawrence+ Memorial Hospital.
- diagnosis of any variation of CUA
Who cannot join
- who will decline to participate in a study upon contact
- non-English speaking except Spanish speaking
- unable to participate in consent or assent process due to mental disability
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Miranda Margetts, PhD contact
United States1 site, 1 recruiting
- Recruiting
Yale University
New Haven, Connecticut, 06511
Monica G Konstantino, RN, 203-785-5816, monica.konstantino@yale.edu
Alla Vash-Margita, MD, FACOG
About this study
The purpose of this research study is to learn more about the health outcomes associated with congenital uterine anomalies (CUAs), and the possible environmental and genetic causes of the condition. The researchers plan to investigate whether any cancer associations (with breast, renal, ovarian, vaginal and uterine cancers) exist in females with CUAs. The investigator will also investigate any environmental and genetic factors that may be responsible for causing CUAs.
Read the detailed description
Aim 1: To identify female subjects diagnosed with a Congenital Uterine Anomaly (CUA) receiving care at Yale New Haven Health.
Aim 2: Identify (i) the prevalence of renal, breast, ovarian, uterine and vaginal cancers associated with CUAs, and (ii) the association of environmental factors, via a survey obtained by phone, email or interview.
Aim 3: Conduct genetic evaluation of the index subjects, parents, sister(s) (as feasible), and female offspring to identify potential causes and patterns of inheritance using whole exome sequencing (WES) and microarray.
Following informed consent, blood will be collected for genetic evaluation. DNA will be extracted from EDTA-blood and analyzed using an integrated approach of microarray for copy number variations (CNV), and Whole Exome Sequencing (WES) for Single Nucleotide Variation (SNV).
Undertaking review of the medical records will identify the cohort of patients we wish to survey to then ascertain further information regarding their CUA diagnosis and other related details. The information to be elicited from the survey are outlined in the attached survey questions. Key associations we seek to investigate include (1) the type and prevalence of renal, breast, ovarian, uterine and vaginal cancers among patients with Mullerian Anomaly, and (2) identifying potential in-utero exposure to particular environmental agents in patients with CUAs.
Review of the medical records will enable us to undertake this first key step of establishing a cohort of subjects with MA and an initial data set related to their specific health information. We anticipate further investigations may build upon this initial data set, both with the cohort established, and more broadly with collaborators and additional national and international cohorts of patients with MA.
- Conditions
- Congenital Uterine Anomaly
- Keywords
- Cancer associations, Environmental factors
- Medical subject headings
- Uterine Anomalies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Patients with Congenital Uterine Anomalies (CUA) | The rates of renal, breast, uterine, ovarian and vaginal cancers in women who have been diagnosed with a CUA will be studies |
What is being measured
The primary outcome is the main question the study is designed to answer.
Prevalence of breast cancer in women with CUA's compared to women without CUA's
Prevalence of breast cancer in women with CUA's compared to women without CUA's will be measured
Measured: 6-months
Prevalence of ovarian cancer in women with CUA's compared to women without CUA's
Prevalence of ovarian cancer in women with CUA's compared to women without CUA's will be measured
Measured: 6-months
Prevalence of uterine cancer in women with CUA's compared to women without CUA's
Prevalence of uterine cancer in women with CUA's compared to women without CUA's will be measured
Measured: 6-months
Prevalence of cervical cancer in women with CUA's compared to women without CUA's
Prevalence of cervical cancer in women with CUA's compared to women without CUA's will be measured
Measured: 6 month
Prevalence of vaginal cancer in women with CUA's compared to women without CUA's
Prevalence of vaginal cancer in women with CUA's compared to women without CUA's will be measured
Measured: 6 month
Prevalence of renal cancer in women with CUA's compared to women without CUA's
Prevalence of renal cancer in women with CUA's compared to women without CUA's will be measured
Measured: 6 month
Secondary outcomes (1)
Whole exome sequencing (WES) and microarray
WES and microarray will be conducted in subjects with CUAs. The discovery of possible causative genes would be measured using yes/no outcome variable.
Measured: 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Dec 2020
- Study start14 Jul 2021
- Primary completion1 Aug 2027 (estimated)
- Study completionAug 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital Uterine AnomalyStudies of the same condition, open and under way.
- More trials run by Yale UniversityThe 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
- Retrospective
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Yale University
- Sponsor type
- University, hospital or other
- Collaborators
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Responsible party
- Sponsor
- Investigators
- Alla Vash-Margita, MD, Principal investigator, Yale UniversityEmanuele Pelosi, MD, Principal investigator, Yale University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04661072
- Sponsor's protocol ID
- 2000028592
- Other IDs
- 1R03HD109641-01A1
- Status last verified
- Jun 2026
- First submitted
- 8 Dec 2020
- Last updated
- 9 Jun 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 9 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Congenital Uterine Anomalies: Identifying Cancer Associations and Genetic and Environmental Factors to Improve Clinical Care
- ClinicalTrials.gov ID
- NCT04661072
- Acronym / sponsor ID
- 2000028592
- Conditions
- Congenital Uterine Anomaly
- Keywords
- Cancer associations, Environmental factors
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- Yale UniversityUniversity, hospital or other
- Collaborators
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Study start
- 14 Jul 2021 (actual)
- Primary completion
- 1 Aug 2027 (estimated)
- Study completion
- Aug 2027 (estimated)
- First posted
- 9 Dec 2020 (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.
The purpose of this research study is to learn more about the health outcomes associated with congenital uterine anomalies (CUAs), and the possible environmental and genetic causes of the condition. The researchers plan to investigate whether any cancer associations (with breast, renal, ovarian, vaginal and uterine cancers) exist in females with CUAs. The investigator will also investigate any environmental and genetic factors that may be responsible for causing CUAs.
Detailed description
Aim 1: To identify female subjects diagnosed with a Congenital Uterine Anomaly (CUA) receiving care at Yale New Haven Health.
Aim 2: Identify (i) the prevalence of renal, breast, ovarian, uterine and vaginal cancers associated with CUAs, and (ii) the association of environmental factors, via a survey obtained by phone, email or interview.
Aim 3: Conduct genetic evaluation of the index subjects, parents, sister(s) (as feasible), and female offspring to identify potential causes and patterns of inheritance using whole exome sequencing (WES) and microarray.
Following informed consent, blood will be collected for genetic evaluation. DNA will be extracted from EDTA-blood and analyzed using an integrated approach of microarray for copy number variations (CNV), and Whole Exome Sequencing (WES) for Single Nucleotide Variation (SNV).
Undertaking review of the medical records will identify the cohort of patients we wish to survey to then ascertain further information regarding their CUA diagnosis and other related details. The information to be elicited from the survey are outlined in the attached survey questions. Key associations we seek to investigate include (1) the type and prevalence of renal, breast, ovarian, uterine and vaginal cancers among patients with Mullerian Anomaly, and (2) identifying potential in-utero exposure to particular environmental agents in patients with CUAs.
Review of the medical records will enable us to undertake this first key step of establishing a cohort of subjects with MA and an initial data set related to their specific health information. We anticipate further investigations may build upon this initial data set, both with the cohort established, and more broadly with collaborators and additional national and international cohorts of patients with MA.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with Congenital Uterine Anomalies (CUA) | – | –The rates of renal, breast, uterine, ovarian and vaginal cancers in women who have been diagnosed with a CUA will be studies |
Who may qualify
- Ages
- 13 years and older
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Women and girls who have received care within the Yale New Haven Health system and have a CUA diagnosis Anticipated number - approximately 300 subjects Age range - from 13 years old and older Health status - able to participate in consent and assent (based on age) process
Key inclusion criteria (4 listed)
- females
- age: 13 or older
- encounters limited to: Yale New Haven Hospital, Bridgeport Hospital, Greenwich Hospital and Lawrence+ Memorial Hospital.
- diagnosis of any variation of CUA
Key exclusion criteria (3 listed)
- who will decline to participate in a study upon contact
- non-English speaking except Spanish speaking
- unable to participate in consent or assent process due to mental disability
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
Prevalence of breast cancer in women with CUA's compared to women without CUA's
Time frame: 6-months
Prevalence of breast cancer in women with CUA's compared to women without CUA's will be measured
Prevalence of ovarian cancer in women with CUA's compared to women without CUA's
Time frame: 6-months
Prevalence of ovarian cancer in women with CUA's compared to women without CUA's will be measured
Prevalence of uterine cancer in women with CUA's compared to women without CUA's
Time frame: 6-months
Prevalence of uterine cancer in women with CUA's compared to women without CUA's will be measured
Prevalence of cervical cancer in women with CUA's compared to women without CUA's
Time frame: 6 month
Prevalence of cervical cancer in women with CUA's compared to women without CUA's will be measured
Prevalence of vaginal cancer in women with CUA's compared to women without CUA's
Time frame: 6 month
Prevalence of vaginal cancer in women with CUA's compared to women without CUA's will be measured
Prevalence of renal cancer in women with CUA's compared to women without CUA's
Time frame: 6 month
Prevalence of renal cancer in women with CUA's compared to women without CUA's will be measured
1 secondary outcome
Whole exome sequencing (WES) and microarray
Time frame: 24 months
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 9 Jun 2026.
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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.
Miranda Margetts, PhD contact
Alla Vash-Margita, MD principal investigator
Yale University
Emanuele Pelosi, MD principal investigator
Yale University
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 Congenital Uterine Anomaly, run by Yale University at 1 site in United States.
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 4 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: looking for participants now, as of the sponsor's last update on 9 Jun 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 United States. 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 Alla Vash-Margita, MD (203-785-4010, alla.vash-margita@yale.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of breast cancer in women with CUA's compared to women without CUA's (time frame: 6-months). The study lists 6 primary outcomes in all. 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 9 Jun 2026.