Clinical trial NCT04661072: Congenital Uterine Anomalies: Identifying Cancer Associations and Genetic and Environmental Factors to Improve Clinical Care
Official title: Congenital Uterine Anomalies: Identifying Cancer Associations and Genetic and Environmental Factors to Improve Clinical Care
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Congenital Uterine Anomaly
Keywords: Cancer associations
Environmental factors
Lead sponsor: Yale University
Sponsor class: OTHER
Collaborators: name: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
First posted: 2020-12-09
Enrollment: 300
Sex: FEMALE
Minimum age (years): 13
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
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

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.

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

Primary outcomes:
measure: Prevalence of breast cancer in women with CUA's compared to women without CUA's
timeFrame: 6-months
measure: Prevalence of ovarian cancer in women with CUA's compared to women without CUA's
timeFrame: 6-months
measure: Prevalence of uterine cancer in women with CUA's compared to women without CUA's
timeFrame: 6-months
measure: Prevalence of cervical cancer in women with CUA's compared to women without CUA's
timeFrame: 6 month
measure: Prevalence of vaginal cancer in women with CUA's compared to women without CUA's
timeFrame: 6 month
measure: Prevalence of renal cancer in women with CUA's compared to women without CUA's
timeFrame: 6 month
Secondary outcomes:
measure: Whole exome sequencing (WES) and microarray
timeFrame: 24 months
Other outcomes:
Locations:
city: New Haven
country: United States
facility: Yale University
state: Connecticut
Study officials:
affiliation: Yale University
name: Alla Vash-Margita, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Yale University
name: Emanuele Pelosi, MD
role: PRINCIPAL_INVESTIGATOR
References: