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

Congenital Uterine Anomaly Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04661072
• Other study ID #: 2000028592
• Secondary ID: 1R03HD109641-01A
• Status: Recruiting
• Start date: July 14, 2021
• Est. completion date: March 2026

Study information

• Verified date: April 2024
• Source: Yale University
• Contact: Alla Vash-Margita, MD
• Phone: 203-785-4010
• Email: alla.vash-margita[@]yale.edu
• Is FDA regulated: No
• Study type: Observational

Clinical 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. 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 300
• Est. completion date: March 2026
• Est. primary completion date: August 2025
• Accepts healthy volunteers: No
• Gender: Female
• Age group: 13 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Congenital Abnormalities
• Congenital Uterine Anomaly
• Urogenital Abnormalities

Locations

Country	Name	City	State
United States	Yale University	New Haven	Connecticut

Sponsors (2)

Lead Sponsor	Collaborator
Yale University	Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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
Primary	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
Primary	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
Primary	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
Primary	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	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.	24 months