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Active, Not Recruiting

NCT Number: NCT04261972

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

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Hereditary Cancer Syndrome Adnexal Diseases Breast Diseases Breast Neoplasms Colonic Diseases Colorectal Neoplasms Colorectal Neoplasms, Hereditary Nonpolyposis Congenital, Hereditary, and Neonatal Diseases and Abnormalities DNA Repair-Deficiency Disorders Digestive System Diseases Digestive System Neoplasms Endocrine Gland Neoplasms Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Gastrointestinal Diseases Gastrointestinal Neoplasms Genetic Diseases, Inborn Genital Diseases Genital Diseases, Female Genital Neoplasms, Female Gonadal Disorders Hereditary Breast and Ovarian Cancer Syndrome Intestinal Diseases Intestinal Neoplasms Metabolic Diseases Neoplasms Neoplasms by Site Neoplastic Syndromes, Hereditary Nutritional and Metabolic Diseases Ovarian Diseases Ovarian Neoplasms Skin Diseases Skin and Connective Tissue Diseases Urogenital Diseases Urogenital Neoplasms

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

BC Cancer Agency, Vancouver, British Columbia, Canada

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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).
  • Individual must be greater than 18 years of age
  • Individual must speak English or French to participate in the qualitative interview and/or survey

Exclusion criteria

  • Individuals that do not meet the outlined inclusion criteria.

Treatment and study plan

Next Generation Sequencing (NGS)

Genetic

NGS

Primary outcomes

  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. 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.

  6. 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.

Sponsors and collaborators

Lead sponsor

University Health Network, Toronto

Other

Collaborators

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

Registry information

Official study title

Early Detection of Cancer in High-risk Patients Through Cell-free DNA 1

Acronym: CHARM1

Important dates

Study start
2018
Primary completion
2024
Study completion
2026
First posted
Feb 10, 2020
Registry last updated
Jan 14, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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