Cell-free DNA in Hereditary And High-Risk Malignancies (CHARM)

February 14, 2022 updated by: University Health Network, Toronto

Early Detection of Cancer in High-risk Patients Through Cell-free DNA

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

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.

Study Type

Observational

Enrollment (Anticipated)

1500

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Canada
    • British Columbia
      • Vancouver, British Columbia, Canada, V5Z 4E6
    • Newfoundland and Labrador
      • St. John's, Newfoundland and Labrador, Canada, A1B 3V6
    • Nova Scotia
      • Halifax, Nova Scotia, Canada, B3K 6R8
    • Ontario
      • Toronto, Ontario, Canada, M5G 2M9
      • Toronto, Ontario, Canada, M5G 1X5
        • Recruiting
        • Sinai Health System
        • Contact:
      • Toronto, Ontario, Canada, M5S 1B2
        • Recruiting
        • Women's College Hospital
        • Contact:
          • Gabby Ene
        • Contact:
        • Principal Investigator:
          • Marcus Bernardini, MD
        • Principal Investigator:
          • Michelle Jacobson, MD
    • Quebec

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (ADULT, OLDER_ADULT)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

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.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
CHARM
Patients identified with hereditary breast and ovarian cancer syndrome (germline BRCA1 or BRCA2 carrier) or Lynch syndrome (germline variant in EPCAM, MLH1, MSH2, MSH6, or PMS2).
Genetic: Next generation sequencing (NGS)
NGS

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Collection of biospecimens from 1500 HSC carriers.
Time Frame: up to 4 years
Facilitate and streamline the collection, banking, and annotation of plasma samples and tumour tissue (if applicable) across Canada.
up to 4 years
Collection of clinical data from 1500 HSC carriers.
Time Frame: up to 4 years
Extract clinical data for all study participants from electronic medical records. Data collection will include family history and medical history.
up to 4 years
Detection of early stage cancer in HCS patients using cfDNA.
Time Frame: up to 4 years
Detect concentration of cfDNA circulating in the blood by shallow whole-genome sequencing, targeted panel analysis, and cfMeDIP.
up to 4 years
Evaluation of the clinical utility of a cfDNA test for HSC patients.
Time Frame: up to 4 years
Conduct qualitative interviews with healthcare providers and patients.
up to 4 years
Evaluation of the optimal implementation of cfDNA in clinical practice.
Time Frame: up to 4 years
Conduct a discrete choice experiment survey with HCS patient and providers.
up to 4 years
Evaluation of cfDNA test implementation through cost-effectiveness analysis of cfDNA versus standard of care.
Time Frame: up to 4 years
Conduct economic modelling using the economic evaluation guidelines from the Canadian Agency for Drugs and Technologies in Health.
up to 4 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Health Network, Toronto

Collaborators

Women's College Hospital
Jewish General Hospital
IWK Health Centre
British Columbia Cancer Agency
Sinai Health System
Eastern Health

Investigators

  • Principal Investigator: Raymond Kim, MD, Princess Margaret Cancer Centre

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (ACTUAL)

July 1, 2018

Primary Completion (ANTICIPATED)

October 1, 2022

Study Completion (ANTICIPATED)

October 1, 2023

Study Registration Dates

First Submitted

January 2, 2020

First Submitted That Met QC Criteria

February 7, 2020

First Posted (ACTUAL)

February 10, 2020

Study Record Updates

Last Update Posted (ACTUAL)

February 15, 2022

Last Update Submitted That Met QC Criteria

February 14, 2022

Last Verified

February 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 1655

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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