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

NCT04661072 | Recruiting DMC

• 2 other identifiers: 20000285921R03HD109641-01A1
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

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.

Conditions

Congenital Uterine Anomaly

Keywords

Cancer associations; Environmental factors

Outcome Measures

Primary Outcomes (6)

• 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

  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

  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

  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

  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

  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

  6 month

Secondary Outcomes (1)

• Whole exome sequencing (WES) and microarray

  24 months

Study Arms (1)

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

Eligibility Criteria

• Age: 13 Years+
• Sex: female
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

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

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Yale University: lead
• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): collaborator

Study Sites (1)

Yale University

New Haven, Connecticut, 06511, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

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).

MeSH Terms

Conditions

Uterine Anomalies

Study Officials

• Alla Vash-Margita, MD

  Yale University

  PRINCIPAL INVESTIGATOR

• Emanuele Pelosi, MD

  Yale University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Alla Vash-Margita, MD

CONTACT

203-785-4010; alla.vash-margita@yale.edu

Miranda Margetts, PhD

CONTACT

miranda.margetts@yale.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 8, 2020
• First Posted: December 9, 2020
• Study Start: July 14, 2021
• Primary Completion (Estimated): August 1, 2027
• Study Completion (Estimated): August 1, 2027
• Last Updated: June 15, 2025

Record last verified: 2025-06

Locations

US (1)