Clinical trial NCT06633276: Fast and Accurate Breast Cancer Diagnosis Using Nanopore Sequencing in Tanzania (Fast-ABCD Sequencing)
Official title: Nanopore Sequencing for Accelerating Breast Cancer Diagnosis in Tanzania: A Prospective Observational Study
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Breast Cancer Invasive
Keywords: Nanopore sequencing
breast cancer
Lead sponsor: University of Bonn
Sponsor class: OTHER
Collaborators: name: German Cancer Research Center
name: Kilimanjaro Christian Medical Centre,Moshi,Tanzania
First posted: 2024-10-09
Enrollment: 100
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: All patients with suspected invasive breast cancer undergoing diagnostic workup will be offered to participate.

Brief summary: 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.

Detailed description: 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.

Eligibility criteria: Inclusion Criteria:

* 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

Exclusion Criteria:

* Unable to provide informed consent
* Patients who have already commenced therapy for BC (except for treatment other than biomedicine, e.g. herbal medicines)

Primary outcomes:
measure: Non-inferiority of nanopore-based biomarker evaluation
timeFrame: 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.
measure: Feasibility
timeFrame: 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.
measure: Turnaround time
timeFrame: Through study completion, an average of 1 year
Secondary outcomes:
measure: Quality of Life (QoL) as assessed by the EORTC-QLQ BR-45 questionnaire
timeFrame: Administered at baseline, 6 months and 12 months.
measure: Patient Reported Experiences (PREs) with diagnostic procedures using a custom questionnaire
timeFrame: Administered within 24-48 hours post-biopsy.
Other outcomes:
Locations:
city: Moshi
country: Tanzania
facility: Kilimanjaro Christian Medical Centre
Study officials:
affiliation: Section Global Health, University Hospital Bonn
name: Oliver Henke, MD
role: PRINCIPAL_INVESTIGATOR
References: