Nanopore Sequencing for Accelerating Breast Cancer Diagnosis in Tanzania: A Prospective Observational Study
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 100
- 试验地点
- 1
- 主要终点
- Non-inferiority of nanopore-based biomarker evaluation
研究概览
简要总结
This pilot study will test the feasibility of using nanopore sequencing for breast cancer diagnosis in Tanzania. It aims to show that nanopore sequencing is non-inferior to the current standard of care, with the potential for faster and more cost-efficient results. By enhancing the speed and accuracy of diagnosis, this approach could improve treatment planning and outcomes for patients in resource-limited settings.
详细描述
Excess fresh tissue samples from patients with suspected breast cancer will undergo nanopore sequencing alongside the current standard of care (SoC), which includes histopathology and biomarker analysis for estrogen receptor, progesterone receptor, and human epidermal growth factor receptor 2 (HER2) status.
Low-pass whole genome sequencing and DNA methylation-based classification will potentially enable the diagnosis of invasive ductal breast cancer in a cost-efficient and highly accurate manner. Additionally, breast cancer subtypes can be determined using methylation signatures and HER2 focal amplification, with results available within hours in a point-of-care setting.
The primary outcome measures are non-inferiority compared to SoC, turnaround time, and overall feasibility. Treatment is not altered due to results of the nanopore sequencing.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patient with suspected diagnosis of breast cancer undergoing biopsy or surgical resection after specialist consultation as per institutional guidelines
- •Excess fresh tumor sample
- •Written informed consent
排除标准
- •Unable to provide informed consent
- •Patients who have already commenced therapy for BC (except for treatment other than biomedicine, e.g. herbal medicines)
结局指标
主要结局
Non-inferiority of nanopore-based biomarker evaluation
时间窗: Concordance will be assessed after the enrollment of each cohort of 25 patients, with the final evaluation after study completion, approximately 12 months from enrollment start.
Concordance of invasive breast cancer diagnosis using nanopore sequencing vs. IHC HR/HER2 status as standard of care. The concordance will be expressed as the percentage agreement between the two methods across 100 patients.
Feasibility
时间窗: The ratio will be assessed continuously after the sequencing of each batch of samples, with the final evaluation at study completion, approximately 12 months from enrollment start.
Feasibility will be measured by calculating the ratio of samples that are successfully sequenced and analyzed using nanopore sequencing technology, compared to the total number of samples processed.
Turnaround time
时间窗: Through study completion, an average of 1 year
Turnaround time will be measured as the time (in days) from biopsy to the availability of the nanopore sequencing report, compared to the time from biopsy to the finalized pathology report.
次要结局
- Patient Reported Experiences (PREs) with diagnostic procedures using a custom questionnaire(Administered within 24-48 hours post-biopsy.)
- Quality of Life (QoL) as assessed by the EORTC-QLQ BR-45 questionnaire(Administered at baseline, 6 months and 12 months.)
研究者
Oliver Henke
Head of Working Group Global Oncology, Section Global Health, University Hospital Bonn
University of Bonn