Congenital Uterine Anomalies: Identifying Cancer Associations and Genetic and Environmental Factors to Improve Clinical Care
Ориентир для пациента и семьи
Простыми словами
Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.
- Что изучают
- Это наблюдательное исследование: исследуемое лечение участникам по протоколу не назначают.
- Кому может быть актуально
- Состояния в реестре: Congenital Uterine Anomaly. Базовые параметры: от 13 лет · Женщины.
- Что важно проверить
- Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
- Где проводится
- США
- Следующий шаг
- Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →
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Обзор
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.
Подробное описание
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.
Первичные конечные точки
- Prevalence of breast cancer in women with CUA's compared to women without CUA's [Срок оценки: 6-months]
- Prevalence of ovarian cancer in women with CUA's compared to women without CUA's [Срок оценки: 6-months]
- Prevalence of uterine cancer in women with CUA's compared to women without CUA's [Срок оценки: 6-months]
- Prevalence of cervical cancer in women with CUA's compared to women without CUA's [Срок оценки: 6 month]
- Prevalence of vaginal cancer in women with CUA's compared to women without CUA's [Срок оценки: 6 month]
- Prevalence of renal cancer in women with CUA's compared to women without CUA's [Срок оценки: 6 month]
Вторичные конечные точки (1)
- Whole exome sequencing (WES) and microarray [Срок оценки: 24 months]
Критерии участия
Критерии включения
- 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
Критерии исключения
- 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
Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Здоровые добровольцы: Нет
Дизайн исследования
- Модель наблюдения
- Когортное
Центры проведения
США · 1 центр
- Yale University — New Haven
Идентификаторы
NCT: NCT04661072 · 2000028592 · 1R03HD109641-01A1