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Early Genomic Testing for Inherited Bleeding Disorders

NCT06736158 · Status: RECRUITING · Phase: EARLY_PHASE1 · Type: INTERVENTIONAL · Enrollment: 212

Last updated 2025-07-31

No results posted yet for this study

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

Interventions

GENETIC

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.

Sponsors & Collaborators

  • Unity Health Toronto

    collaborator OTHER

  • The Ottawa Hospital

    collaborator OTHER

  • Queen's University

    lead OTHER

Principal Investigators

  • Paula D James, MD, FRCPC · Queen's University

Study Design

Allocation
RANDOMIZED
Purpose
DIAGNOSTIC
Masking
NONE
Model
PARALLEL

Eligibility

Min Age
12 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-05-31
Primary Completion
2026-12-31
Completion
2027-04-30

Countries

  • Canada

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06736158 on ClinicalTrials.gov