Congenital Uterine Anomalies: Identifying Cancer Associations and Genetic and Environmental Factors to Improve Clinical Care

NCT ID: NCT04661072

Last Updated: 2025-06-15

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 300 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2021-07-14
• Study Completion Date: 2027-08-31

Brief 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. 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.

Conditions

Congenital Uterine Anomaly

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: RETROSPECTIVE

Study Groups

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

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

• 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

Exclusion Criteria

• 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

• Minimum Eligible Age: 13 Years
• Eligible Sex: FEMALE
• Accepts Healthy Volunteers: No

Sponsors

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

NIH

Sponsor Role: collaborator

Yale University

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Alla Vash-Margita, MD

Role: PRINCIPAL_INVESTIGATOR

Yale University

Emanuele Pelosi, MD

Role: PRINCIPAL_INVESTIGATOR

Yale University

Locations

Yale University

New Haven, Connecticut, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

Alla Vash-Margita, MD

Role: CONTACT

alla.vash-margita@yale.edu

203-785-4010

Miranda Margetts, PhD

Role: CONTACT

miranda.margetts@yale.edu

Facility Contacts

Monica G Konstantino, RN

Role: primary

monica.konstantino@yale.edu

203-785-5816

Other Identifiers

1R03HD109641-01A1

Identifier Type: NIH

Identifier Source: secondary_id

View Link

2000028592

Identifier Type: -

Identifier Source: org_study_id