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
Queen's University
212 participants
May 31, 2025
INTERVENTIONAL
Conditions
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).
Eligibility
Inclusion Criteria3
- 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 Criteria2
- Prior diagnosis of an inherited bleeding disorder.
- Acquired cause of bleeding (i.e., medication known to cause bleeding, significant renal or hepatic disease)
Interested in this trial?
Get notified about updates and connect with the research team.
Interventions
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.
Locations(3)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT06736158