Recruiting

Observational Study

Sponsor:

University Health Network, Toronto

Code:

NCT06726642

Conditions

Hereditary Cancer Syndrome

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

Interventions

Cell-free DNA analysis

Study Details

Brief summary:

The goal of this study is to understand the performance of an experimental blood test that aims to detect early tumors in patients with hereditary cancer syndromes. 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 compare cancer detection rates between those receiving the new blood test and those receiving standard care, assess if the test leads to earlier cancer diagnosis, and evaluate its impact on patient outcomes. The study will also use questionnaires and interviews to understand how patients feel about the blood test, its incorporation into routine medical care, and perceptions of the medical value of test results. This research could lead to more effective and less invasive cancer screening for high-risk individuals.

Conditions

Hereditary Cancer Syndrome

Study ID

NCT06726642

Start date

Apr 19, 2024

Status verified date

Dec, 2025

Completion date

Dec, 2031

Anticipated

Primary completion date

Dec, 2029

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • Patients with a confirmed diagnosis of hereditary breast and ovarian cancer (HBOC), Lynch Syndrome (LS), Neurofibromatosis type I (NF1), Li-Fraumeni Syndrome (LFS), PALB2, and Hereditary Diffuse Gastric Cancer (HDGC), (i.e., patients with an identified pathogenic variant in the respective cancer predisposition gene, or patients with uninformative genetic testing but with a family history suggestive of the cancer predisposition syndrome).
  • Patients must be receiving standard-of-care clinical assessment for cancer by a managing physician under a provincial screening program or cancer surveillance protocol.
  • All patients must have signed and dated an informed consent form for this study.

Exclusion Criteria:

  • Patients must not have a personal history of cancer diagnosed and treated within 3 years prior to the expected first sample collection date for this study. If a patient has a personal history of cancer, treatment must have been completed successfully at least 3 years prior to first study sample collection.
  • Patients diagnosed more than 3 years prior to the expected first sample collection date, but never been treated for the cancer.
  • Patients undergoing investigations for a clinical suspicion of cancer.
  • Patients who are not able to comply with the protocol (i.e., tri-annual blood sample collection if randomized into the experimental cohort).

Study Design

Enrollment

1000 participants

Anticipated

Interventions and Outcome Measures

Arms

Test cohort

All participants in the experimental cohort will provide blood samples tri-annually (every 4 months) for 4 years, either at the study hospital or at a local blood laboratory (e.g., LifeLabs). Whenever possible, patients will have research blood collected at the same time as routine blood collections for clinical purposes to avoid additional venipunctures. The samples will undergo cfDNA analysis and all results will be returned to participants by the study team. Participants who receive a "positive" cfDNA assay result will be offered follow-up diagnostic procedures to confirm or rule out the presence of a malignancy. Participants will also complete questionnaires and semi-structured interviews to explore their experience with cfDNA testing and understand perceptions of the clinical utility of cfDNA tests for HCS management.

Control

Participants in the control cohort will not receive the cfDNA blood test and will continue to receive standard-of-care cancer surveillance according to current guidelines, as they were prior to study enrollment. Participants will complete questionnaires and semi-structured interviews to explore their experience with cfDNA testing and to understand their perception of the clinical utility of cfDNA tests for HCS management.

Interventions

Cell-free DNA analysis

Analysis of cell-free DNA in blood plasma will involve targeted sequencing of key cancer-related genes, cell-free methylated DNA immunoprecipitation and high-throughput sequencing (cfMeDIP-seq), and shallow whole genome sequencing (sWGS).

Primary outcome measure

  • Determine the cancer detection rate of the cfDNA sequencing assay in patients with HCS. [ Time Frame: 4 years from enrollment in the study. ]

Central Contacts and Locations

Central contacts

Julia Sobotka, MSc

416-409-1387charm@uhn.ca

Locations

Sinai Health System

Recruiting

Toronto, Ontario, Canada, M5G 1X5

Contacts

Raymond Kim, MD

416-586-4800raymond.kim@uhn.ca

Principal Investigator:

Raymond Kim, MD

University Health Network

Recruiting

Toronto, Ontario, Canada, M5G 2M9

Contacts

Raymond Kim, MD

416-586-4800raymond.kim@uhn.ca

Julia Sobotka, MSc

julia.sobotka@uhn.ca

Principal Investigator:

Raymond Kim, MD

More Information

Sponsor

University Health Network, Toronto

Last update posted

Dec 16, 2025

Last verified

Dec, 2025

Keywords

  • cfDNA
  • cell-free DNA
  • Hereditary cancer syndrome
  • BRCA1
  • BRCA2
  • Lynch Syndrome
  • Hereditary breast and ovarian cancer (HBOC)
  • Liquid biopsy
  • Circulating tumor DNA
  • Hereditary Diffuse Gastric Cancer (HDGC)
  • Li-Fraumeni syndrome

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by University Health Network, Toronto on 2025-12-16.