Genetic Predisposition Testing Program for Pancreatic Neuroendocrine Neoplasms
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
- В протоколе указаны: Hereditary Cancer Panel.
- Кому может быть актуально
- Состояния в реестре: Pancreatic Neuroendocrine Neoplasm. Базовые параметры: от 18 лет · Все.
- 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
This is a prospective observational multi-center pilot study of germline testing for participants receiving care at University of California participating locations with a new or existing diagnosis of Pancreatic Neuroendocrine Neoplasms (PanNEN). This protocol is an extension of existing Genetic Testing Station efforts at University of California, San Francisco (UCSF)
Подробное описание
PRIMARY OBJECTIVE:
I. To assess the frequency of germline mutations in patients with PanNEN.
SECONDARY OBJECTIVES:
I. To assess the rates of different types of germline mutations in patients PanNEN.
II. To assess the rates of different types of variants of uncertain significance in patients with PanNEN.
III. To estimate the rate of completion of genetic testing in patients who are offered prospective germline testing.
EXPLORATORY OBJECTIVES:
I. To examine attitudes of patients who have completed germline testing.
II. To explore reasons for declining germline testing.
III. In patients with repeat germline testing, compare the frequency of germline alteration between tests.
IV. Assess the relationship between germline pathogenic variants and somatic mutations in PanNEN.
OUTLINE:
Potential eligible participants will be identified via chart review and invited to consent to the study. Study participants who agree to prospective testing and have not had previous large panel germline testing will watch an informational video about germline testing and be offered testing with University of California, San Francisco's (UCSF) Expanded Hereditary Cancer Panel. Study participants who decline germline testing will be asked to answer a one-question Declination Survey. Results will be shared with participants and their providers per the standard of practice at each participating study site. All participants who decided to receive germline testing will be asked to complete a decision survey.
Вмешательства
- Диагностический тест Hereditary Cancer Panel
UCSF's Internal Clinical Laboratory Improvement Amendments of 1988 (CLIA)-certified Expanded Hereditary Cancer Panel will be employed which measures a minimum 88 genes
Первичные конечные точки
- Rate of overall pathogenic germline mutations [Срок оценки: Up to 2 years]
Вторичные конечные точки (4)
- Rates of different types of pathogenic mutations [Срок оценки: Up to 2 years]
- Rates of different types of variants of uncertain significance (VUS) [Срок оценки: Up to 2 years]
- Rate of declination for participants offered testing. [Срок оценки: Up to 2 years]
- Rate of completion of testing [Срок оценки: Up to 2 years]
Критерии участия
Критерии включения
- Histologically confirmed PanNEN.
a. The diagnostic biopsy may have been taken from any site (primary or metastatic).
- New and existing PanNEN participants will be eligible (any grade, any stage, any age > 18 years).
- Participants willing and able to comply with the study procedures.
Критерии исключения
- Inability to provide informed consent.
- For participants who have not had prior testing with a dedicated germline pane of at least 80 genes:
- Inability to speak/read a language supported by the germline testing station (GTS). The supported languages currently include English, Korean, Japanese, Vietnamese, Russian, Tagalog, Farsi, Spanish, Cantonese, Mandarin, and Arabic).
- Active hematologic malignancy.
- History of allogenic bone marrow transplant or stem cell transplant.
Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Дизайн исследования
- Модель наблюдения
- Когортное
Центры проведения
США · 3 центра
- University of California, Los Angeles — Los Angeles
- Univeristy of California, San Diego — San Diego
- University of California, San Francisco — San Francisco
Идентификаторы
NCT: NCT05746182 · 224513 · NCI-2023-01566