Clinical trial NCT04261972: Cell-free DNA in Hereditary And High-Risk Malignancies
Official title: Early Detection of Cancer in High-risk Patients Through Cell-free DNA
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Hereditary Cancer Syndrome
Keywords: Circulating tumour DNA
Cell-free DNA (cfDNA)
Hereditary cancer syndrome
Cancer
BRCA1
Lynch syndrome
Hereditary breast and ovarian cancer
Liquid biopsies
BRCA2
Lead sponsor: University Health Network, Toronto
Sponsor class: OTHER
Collaborators: name: Sinai Health System
name: Women's College Hospital
name: Jewish General Hospital
name: IWK Health Centre
name: Eastern Health
name: BC Cancer
First posted: 2020-02-10
Enrollment: 1416
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: The population to be studied includes:

1. Any individual that underwent clinical genetic testing for hereditary breast and ovarian cancer syndrome or Lynch Syndrome and was found to carry a detectable variant that is likely pathogenic or pathogenic.
2. Any individual with a suspected cancer predisposition that has not yet received genetic testing.
3. Any individual who received negative genetic test results but has a strong personal or family history of cancer.

Brief summary: 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.

Detailed description: 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.

Eligibility criteria: 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.

Primary outcomes:
measure: Collection of biospecimens from 1500 HSC carriers.
timeFrame: up to 4 years
measure: Collection of clinical data from 1500 HSC carriers.
timeFrame: up to 4 years
measure: Detection of early stage cancer in HCS patients using cfDNA.
timeFrame: up to 4 years
measure: Evaluation of the clinical utility of a cfDNA test for HSC patients.
timeFrame: up to 4 years
measure: Evaluation of the optimal implementation of cfDNA in clinical practice.
timeFrame: up to 4 years
measure: Evaluation of cfDNA test implementation through cost-effectiveness analysis of cfDNA versus standard of care.
timeFrame: up to 4 years
Secondary outcomes:
Other outcomes:
Locations:
city: Vancouver
country: Canada
facility: BC Cancer Agency
state: British Columbia
city: St. John's
country: Canada
facility: Eastern Health
state: Newfoundland and Labrador
city: Halifax
country: Canada
facility: IWK Health Centre
state: Nova Scotia
city: Toronto
country: Canada
facility: Sinai Health System
state: Ontario
city: Toronto
country: Canada
facility: University Health Network
state: Ontario
city: Toronto
country: Canada
facility: Women's College Hospital
state: Ontario
city: Montreal
country: Canada
facility: Jewish General Hospital
state: Quebec
Study officials:
affiliation: Princess Margaret Cancer Centre
name: Raymond Kim, MD
role: PRINCIPAL_INVESTIGATOR
References: