CfDNA in Hereditary And High-risk Malignancies (CHARM) 2: Evaluating the Performance of a cfDNA Blood Test for Early Cancer Detection
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 1,000
- 试验地点
- 8
- 主要终点
- Determine the cancer detection rate of the cfDNA sequencing assay in patients with HCS.
研究概览
简要总结
The goal of this study is to understand the performance of an experimental blood test that aims to detect early tumors in patients with hereditary cancer syndromes. If this new blood test is accurate, it could be used to screen patients for cancer and allow for earlier cancer detection. The study will compare cancer detection rates between those receiving the new blood test and those receiving standard care, assess if the test leads to earlier cancer diagnosis, and evaluate its impact on patient outcomes. The study will also use questionnaires and interviews to understand how patients feel about the blood test, its incorporation into routine medical care, and perceptions of the medical value of test results. This research could lead to more effective and less invasive cancer screening for high-risk individuals.
详细描述
Through the CHARM Consortium (www.charmconsortium.ca), the investigators have shown that cell-free DNA (cfDNA) profiling can enable more frequent cancer surveillance from readily accessible blood collections. The investigators are now conducting a prospective, multi-center, randomized control trial of cfDNA testing of 1,000 HCS carriers from across Canada to 1) compare cancer detection rates with and without cfDNA testing, 2) assess cancer stage shift and clinical impact reducing mortality and morbidity cancers, and 3) assess impact of access to cfDNA results on patients' quality of life and psychological distress.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- — 至 90 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients with a confirmed diagnosis of hereditary breast and ovarian cancer (HBOC), Lynch Syndrome (LS), Neurofibromatosis type I (NF1), Li-Fraumeni Syndrome (LFS), PALB2, and Hereditary Diffuse Gastric Cancer (HDGC), (i.e., patients with an identified pathogenic variant in the respective cancer predisposition gene, or patients with uninformative genetic testing but with a family history suggestive of the cancer predisposition syndrome).
- •Patients must be receiving standard-of-care clinical assessment for cancer by a managing physician under a provincial screening program or cancer surveillance protocol.
- •All patients must have signed and dated an informed consent form for this study.
排除标准
- •Patients must not have a personal history of cancer diagnosed and treated within 3 years prior to the expected first sample collection date for this study. If a patient has a personal history of cancer, treatment must have been completed successfully at least 3 years prior to first study sample collection.
- •Patients diagnosed more than 3 years prior to the expected first sample collection date, but never been treated for the cancer.
- •Patients undergoing investigations for a clinical suspicion of cancer.
- •Patients who are not able to comply with the protocol (i.e., tri-annual blood sample collection if randomized into the experimental cohort).
结局指标
主要结局
Determine the cancer detection rate of the cfDNA sequencing assay in patients with HCS.
时间窗: 4 years from enrollment in the study.
The investigators will assess the performance of the cfDNA assay for cancer detection in patients with HCS, including assay sensitivity, specificity, positive predictive value (PPV,) and negative predictive value (NPV). The test performance endpoint is a diagnosis of cancer and will be assessed at multiple points during the study (at a minimum yearly).
次要结局
- To assess the time to cancer diagnosis using cfDNA sequencing compared to controls.(4 years from enrollment in the study.)
- To assess the detection rate of cancers with no standard-of-care screening available using cfDNA sequencing.(4 years from enrollment in the study.)
- Assess the impact of tri-annual cfDNA testing on participant cancer worry.(4 years from enrollment in the study.)
- Assess the impact of tri-annual cfDNA testing on cancer risk perception.(4 years from enrollment in the study.)
- Assess the impact of tri-annual cfDNA testing on cancer anxiety and depression.(4 years from enrollment in the study.)