Cell-free DNA in Hereditary And High-Risk Malignancies 1

N/AActive Not RecruitingNCT04261972

University Health Network, Toronto1,416 enrolled

Overview

The goal of this study is to develop an effective, sensitive blood test that can detect early tumours in patients with known or suspected hereditary cancer syndromes (HCS). 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 also use questionnaires and interviews to understand how patients feel about incorporating these tests into routine medical care, and the perceptions of the medical value of test results.

The objective of this protocol is to develop a method to detect early signs of cancer in 'previvors' (people with HCS that do not yet have a cancer diagnosis). This will enable prediction of cancer onset so that patients and their doctors can make decisions to treat or prevent the cancers. HCS patients will be recruited from across Canada to provide blood samples before and after cancer diagnosis. In parallel, there will be development of a circulating tumour DNA (ctDNA) -based test to detect early stage cancer and evaluation on the cost-effectiveness and feasibility of integrating such screening protocols into routine clinical care. In concert, consultation with patients and health care providers will occur to create recommendations for use within clinical care. CHARM1 leads into its follow-up study, CHARM2.

Study Type

OBSERVATIONAL

Enrollment

1,416

Conditions

Hereditary Cancer Syndrome

Interventions

Next generation sequencing (NGS)GENETIC

NGS

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

Inclusion Criteria: 1. Individual with any known or suspected hereditary cancer predisposition (i.e. individuals with an identified pathogenic or likely pathogenic variant in a cancer predisposition gene and/or a family history of cancer without an identified gene mutation) at any stage in their cancer journey (ie: cancer survivor, unaffected with cancer, current cancer patient). 2. Individual must be greater than 18 years of age 3. Individual must speak English or French to participate in the qualitative interview and/or survey Exclusion Criteria: 1\. Individuals that do not meet the outlined inclusion criteria.

Locations (7)

BC Cancer Agency

Vancouver, British Columbia, Canada

Eastern Health

St. John's, Newfoundland and Labrador, Canada

IWK Health Centre

Halifax, Nova Scotia, Canada

Sinai Health System

Toronto, Ontario, Canada

Outcomes

Primary Outcomes

Collection of biospecimens from 1500 HSC carriers.

Facilitate and streamline the collection, banking, and annotation of plasma samples and tumour tissue (if applicable) across Canada.

Time frame: up to 4 years

Collection of clinical data from 1500 HSC carriers.

Extract clinical data for all study participants from electronic medical records. Data collection will include family history and medical history.

Time frame: up to 4 years

Detection of early stage cancer in HCS patients using cfDNA.

Detect concentration of cfDNA circulating in the blood by shallow whole-genome sequencing, targeted panel analysis, and cfMeDIP.

Time frame: up to 4 years

Evaluation of the clinical utility of a cfDNA test for HSC patients.

Conduct qualitative interviews with healthcare providers and patients.

Time frame: up to 4 years

Evaluation of the optimal implementation of cfDNA in clinical practice.

Conduct a discrete choice experiment survey with HCS patient and providers.

Time frame: up to 4 years

Evaluation of cfDNA test implementation through cost-effectiveness analysis of cfDNA versus standard of care.

Conduct economic modelling using the economic evaluation guidelines from the Canadian Agency for Drugs and Technologies in Health.

Time frame: up to 4 years

Data from ClinicalTrials.gov

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