Clinical trial NCT04972201: A Proof of Concept Study of Pan-cancer Early Detection by Liquid Biopsy
Official title: The Performance of a Pan-cancer Early Detection Model Based on Liquid Biopsy of Various-omics Biomarkers: a Proof of Concept Study
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Cancer
Keywords: cancer
liquid biopsy
cell-free DNA (cfDNA)
microRNA (miRNA)
early detection
Lead sponsor: Cancer Institute and Hospital, Chinese Academy of Medical Sciences
Sponsor class: OTHER
Collaborators: name: Guangzhou Burning Rock Dx Co., Ltd.
First posted: 2021-07-22
Enrollment: 2305
Sex: ALL
Minimum age (years): 40
Maximum age (years): 75
Standard ages: ADULT
OLDER_ADULT
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Eligible participants will be re recruited from medical centers and assigned into two arms, including participants with new diagnosis of cancers and healthy participants.

Brief summary: PROMISE is a multi-center, prospective and proof of concept study aimed to evaluate the performance of 3 prototype assays of cell-free DNA (cfDNA) mutation, cfDNA methylation and microRNA (miRNA) expression in early detection of multi-cancer. Assay(s) will be selected for further development. The study will enroll approximately 2035 participants, including participants with cancers and healthy participants.

Detailed description: Blood samples will be prospectively collected from cancer patients and non-cancer individuals. Targeted cell-free DNA (cfDNA) methylation panel of \~490,000 CpG sites, a 168-gene mutation panel and 16 proteins will be applied. Participants will be stratified by age and clinical status and split into the training and the testing sets. The multi-cancer detection blood test models were developed on training set and validated on testing set.

Eligibility criteria: Inclusion Criteria for Cancer Arm Participants:

* Ability to provide a written informed consent
* 40-75 years old
* Ability to comply with study procedures
* Confirmed diagnosis or suspicious cases of one of the 9 types of cancers within 42 days prior to study blood draw.
* No prior anti-cancer therapy (local or systematic) prior to study blood draw

Exclusion Criteria for Cancer Arm Participants:

* Pregnancy or lactating women
* Recipients of organ transplant or prior non-autologous (allogeneic) bone marrow transplant or stem cell transplant
* Recipients of blood transfusion within 7 days prior to study blood draw
* Recipients of any anti-cancer therapy within 30 days prior to study blood draw, due to diseases other than cancer
* Known prior diagnosis of malignancies, other current malignant diseases or multiple primary tumors
* No confirmed diagnosis of cancer by histopathological or radiological assessments within 42 days of study blood draw, or diagnosis of a benign disease or precancerous lesions by histopathological assessments, or inability to characterize whether the lesion is malignant or benign

Inclusion Criteria for Healthy Arm Participants:

* Ability to provide a written informed consent
* 40-75 years old
* No cancer-related symptoms or discomfort within 30 days prior to study blood draw
* Ability to comply with study procedures
* No clinically significant finding by laboratory tests and radiology examinations

Exclusion Criteria for Healthy Arm Participants:

* Pregnancy or lactating women
* Recipients of organ transplant or prior non-autologous (allogeneic) bone marrow transplant or stem cell transplant
* Recipients of blood transfusion within 7 days prior to study blood draw
* Clinically significant or uncontrolled comorbidities
* Prior or ongoing treatment of cancer within 3 years prior to study blood draw

Primary outcomes:
measure: Sensitivity of early detection of cancers and Tissue of origin (TOO) accuracy of 3 assays of cfDNA mutation, cfDNA methylation and miRNA expression when specificity was 90%, 95% or 98% in healthy participants
timeFrame: 9 months
Secondary outcomes:
measure: Sensitivity, specificity and TOO accuracy of an assay of cfDNA mutation in various types of cancer in different stages
timeFrame: 9 months
measure: Sensitivity, specificity and TOO accuracy of an assay of cfDNA methylation in various types of cancer in different stages
timeFrame: 9 months
measure: Sensitivity, specificity and TOO accuracy of an assay of miRNA expression in various types of cancer in different stages
timeFrame: 9 months
measure: Sensitivity, specificity and TOO accuracy of combined assays of cfDNA mutation, cfDNA methylation and/or miRNA expression in early detection of cancers
timeFrame: 9 months
Other outcomes:
Locations:
city: Beijing
country: China
facility: Cancer Institute and Hospital, Chinese Academy of Medical Sciences
Study officials:
affiliation: Cancer Institute and Hospital, Chinese Academy of Medical Sciences
name: Jie Wang, M.D., Ph.D.
role: PRINCIPAL_INVESTIGATOR
References: