Hereditary Cancer SyndromeCHARM1NCT04261972
Cell-free DNA in Hereditary And High-Risk Malignancies 1
An observational study of Hereditary Cancer Syndrome, run by University Health Network, Toronto at 7 sites in Canada.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Hereditary Cancer Syndrome
- What is being tested?
- Next generation sequencing (NGS)
- How many people
- 1,416 participants
- Where
- 7 sitesCanada
- Study dates
- 1 Jul 2018to 31 Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
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.
Who may be able to join
- 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
Who cannot join
- 1. Individuals that do not meet the outlined inclusion criteria.
Trial locations and contacts
7 sites in 1 country.
7 sites in 1 country
Canada7 sites
IWK Health Centre
Halifax, Nova Scotia, B3K 6R8
Jewish General Hospital
Montreal, Quebec, H3T 1E2
Eastern Health
St. John's, Newfoundland and Labrador, A1B 3V6
Sinai Health System
Toronto, Ontario, M5G 1X5
University Health Network
Toronto, Ontario, M5G 2M9
Women's College Hospital
Toronto, Ontario, M5S 1B2
BC Cancer Agency
Vancouver, British Columbia, V5Z 4E6
About this study
Official title: Early Detection of Cancer in High-risk Patients Through Cell-free DNA 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.
Read the 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.
CHARM1 leads into its follow-up study, CHARM2.
- Conditions
- Hereditary Cancer Syndrome
- Being tested
- Next generation sequencing (NGS)
- Keywords
- Circulating tumour DNA, Cell-free DNA (cfDNA), Hereditary cancer syndrome, Cancer, BRCA1, Lynch syndrome, Hereditary breast and ovarian cancer, Liquid biopsies, BRCA2
- Medical subject headings
- Neoplastic Syndromes, Hereditary, Neoplasms, Colorectal Neoplasms, Hereditary Nonpolyposis, Hereditary Breast and Ovarian Cancer Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Next generation sequencing (NGS)Genetic
NGS
| Study group | Role | What they receive |
|---|---|---|
| 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). Receives: Genetic: Next generation sequencing (NGS) |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: up to 4 years
Evaluation of the clinical utility of a cfDNA test for HSC patients.
Conduct qualitative interviews with healthcare providers and patients.
Measured: 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.
Measured: 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.
Measured: up to 4 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Feb 2020
- Study start1 Jul 2018
- Primary completion31 Dec 2024
- Study completion31 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hereditary Cancer SyndromeStudies of the same condition, open and under way.
- More trials run by University Health Network, TorontoThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 1,416 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Health Network, Toronto
- Sponsor type
- University, hospital or other
- Collaborators
- Sinai Health System, Women's College Hospital, Jewish General Hospital, IWK Health Centre, British Columbia Cancer Agency, Eastern Health
- Responsible party
- Sponsor
- Investigators
- Raymond Kim, MD, Principal investigator, Princess Margaret Cancer Centre
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04261972
- Sponsor's protocol ID
- 1655
- Acronym
- CHARM1
- Status last verified
- Jan 2026
- First submitted
- 2 Jan 2020
- Last updated
- 14 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 14 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Early Detection of Cancer in High-risk Patients Through Cell-free DNA 1
- ClinicalTrials.gov ID
- NCT04261972
- Acronym / sponsor ID
- CHARM1 / 1655
- 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
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 1,416 participants (actual)
- Lead sponsor
- University Health Network, TorontoUniversity, hospital or other
- Collaborators
- Sinai Health System, Women's College Hospital, Jewish General Hospital, IWK Health Centre, British Columbia Cancer Agency, Eastern Health
- Study start
- 1 Jul 2018 (actual)
- Primary completion
- 31 Dec 2024 (actual)
- Study completion
- 31 Dec 2026 (estimated)
- First posted
- 10 Feb 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
CHARM1 leads into its follow-up study, CHARM2.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| CHARM | – | Genetic: Next generation sequencing (NGS)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). |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (1 listed)
- 1. Individuals that do not meet the outlined inclusion criteria.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Next generation sequencing (NGS)NGS | Genetic | CHARM |
Primary outcome
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.
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.
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.
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.
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.
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 Jan 2026.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Raymond Kim, MD principal investigator
Princess Margaret Cancer Centre
7 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hereditary Cancer Syndrome, run by University Health Network, Toronto at 7 sites in Canada.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 14 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 sites in Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Collection of biospecimens from 1500 HSC carriers. (time frame: up to 4 years). The study lists 6 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 14 Jan 2026.