NCT06736158

Early Genomic Testing for Inherited Bleeding Disorders

Early Genomic Testing for Inherited Bleeding Disorders in Patients Without a Diagnosis After First Line Testing: a Randomized Controlled Trial

• Status: Recruiting
• Phase: EARLY_Phase 1
• Study type: Interventional
• Enrollment: 212 (estimated)
• Sponsor: Queen's University · Academic / Other
• Sex: All
• Age: 12 Years
• Healthy volunteers: Not accepted

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).

Detailed description

With the current standardized diagnostic testing process up to 50% of people referred with significant bleeding symptoms will be classified as bleeding disorder of unknown cause (BDUC), defined as those with a positive bleeding score but in whom all current diagnostic test results are repeatedly normal. Incorporating genomic testing early in the diagnostic pathway could significantly improve diagnostic yield, reduce diagnostic delay, alleviate patient anxiety, and allow for more prompt symptom recognition and targeted treatment.

Conditions

• Bleeding Disorder

Interventions

Type	Name	Description
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.

Timeline

• Start date: 2025-05-31
• Primary completion: 2026-12-31
• Completion: 2027-04-30
• First posted: 2024-12-16
• Last updated: 2025-07-31

Locations

3 sites across 1 country: Canada