Recruiting
Early Phase 1

Genomic Testing

Sponsor:

Queen's University

Code:

NCT06736158

Conditions

Bleeding Disorder

Eligibility Criteria

Sex: All

Age: 12+

Healthy Volunteers: Not accepted

Interventions

Genetic testing for inherited bleeding disorders

Study Details

Brief summary:

The investigators aim to test the introduction of genomic testing early in the diagnostic pathway for inherited bleeding disorders in patients who have not received a diagnosis after first-line testing.

The goal of this clinical trial is to test the introduction of genomic testing early in the diagnostic pathway for patients referred to Hematology for a suspected inherited bleeding disorder. The main questions it aims to answer are:

1. Does adding early genomic testing increase the number of patients who are diagnosed?
2. Does adding early genomic testing decrease the overall time to diagnosis?
3. Is it cost-effective to include early genomic testing in the diagnostic pathway?

The investigators will compare with a control group of participants who are receiving standard care (no early genomic testing).

Participants will randomized to a standardized diagnostic testing plus early genomic testing group or to the standardized diagnostic testing group only (with the possibility of being offered genomic testing after 1 year in the study).

Conditions

Bleeding Disorder

Study ID

NCT06736158

Start date

May 31, 2025

Status verified date

Jul, 2025

Completion date

Apr 30, 2027

Anticipated

Primary completion date

Dec 31, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 12+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • New patient referred for abnormal bleeding.
  • Hemostasis expert clinician determined abnormal bleeding history AND family history of bleeding
  • OR no family history of bleeding but hemostasis expert clinician determined severe bleeding history.

Exclusion Criteria:

  • Prior diagnosis of an inherited bleeding disorder.
  • Acquired cause of bleeding (i.e., medication known to cause bleeding, significant renal or hepatic disease)

Study Design

Enrollment

212 participants

Anticipated

Allocation

Randomized

Intervention Model

Parallel Assignment

Primary purpose

Diagnostic

Interventions and Outcome Measures

Arms

experimental: Early Genomic Testing Diagnostic Pathway

Participants will receive early genomic testing in addition to standard diagnostic testing.

no intervention: Standard Diagnostic Pathway

Participants will receive standard diagnostic testing with the option of receiving genomic testing after 12 months.

Interventions

Genetic testing for inherited bleeding disorders

Gene panel for bleeding: This analysis will look at a list of genes known to be associated with rare coagulation, platelet, connective tissue, and bleeding disorders. There are currently 318 genes on the panel however this list may be updated throughout the study. Genes of study include those on the the International Society of Thrombosis and Haemostasis (ISTH) TIER-1 (the first group of genes are the diagnostic-grade) and TIER-2 gene list, as well as additional genes identified in published research.

Primary outcome measure

  • Diagnostic yield [ Time Frame: One year ]

Central Contacts and Locations

Central contacts

Julie Grabell, CCRP

1 613 533 6000grabell@queensu.ca

Megan Chaigneau, RN

1 613 533 6000megan.chaigneau@queensu.ca

Locations

Queen's University/Kingston Health Sciences Centre

Recruiting

Kingston, Ontario, Canada, K7L 3N6

Contacts

Julie Grabell, CCRP

+16135336000grabell@queensu.ca

Megan Chaigneau, RN

+16135336000megan.chaigneau@queensu.ca

Principal Investigator:

Paula D James, MD, FRCPC

The Ottawa Hospital

Recruiting

Ottawa, Ontario, Canada, K8N 1J4

Contacts

Amanda Pecarskie

+16137378899apecarskie@ohri.ca

Principal Investigator:

Roy Khalifé, MD

More Information

Sponsor

Queen's University

Last update posted

Jul 31, 2025

Last verified

Jul, 2025

Keywords

  • blood coagulation disorders
  • bleeding disorder

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Queen's University on 2025-07-31.