Early genomic testing to find inherited causes of bleeding
Early Genomic Testing for Inherited Bleeding Disorders in Patients Without a Diagnosis After First Line Testing: a Randomized Controlled Trial
This project will test whether doing genomic testing early helps people referred to hematology with suspected inherited bleeding disorders get diagnosed sooner and more often.
Quick facts
| Phase | Early Phase 1 |
|---|---|
| Study type | Interventional |
| Enrollment | 212 (estimated) |
| Ages | 12 Years and up |
| Sex | All |
| Sponsor | Queen's University Academic / other |
| Locations | 3 sites (Kingston, Ontario and 2 other locations) |
| Trial ID | NCT06736158 on ClinicalTrials.gov |
What this trial studies
This randomized early-phase interventional study will assign new patients referred for suspected inherited bleeding disorders to standardized diagnostic testing with or without early genomic sequencing. Key outcomes are diagnostic yield (number of patients receiving a genetic diagnosis), time to diagnosis, and cost-effectiveness of adding genomic testing. Participants will be recruited at three Canadian centers and followed through the diagnostic pathway with standardized testing protocols, and control-arm participants may receive genomic testing later per usual care. The study aims to see if early genomic testing reduces the proportion of bleeding disorder of unknown cause (BDUC) and shortens diagnostic delay.
Who should consider this trial
Good fit: Ideal candidates are new patients referred to hematology with an expert-confirmed abnormal bleeding history and either a family history of bleeding or a severe unexplained bleeding history.
Not a fit: Patients who already have a confirmed inherited bleeding disorder or whose bleeding is clearly due to an acquired cause (for example medication effects or advanced liver or kidney disease) are unlikely to benefit.
Why it matters
Potential benefit: If successful, earlier genomic testing could increase diagnosis rates, shorten time to diagnosis, guide more targeted management, and reduce patient uncertainty.
How similar studies have performed: Genomic testing has identified genetic causes in other inherited bleeding cohorts and rare disease programs, but introducing it early in routine diagnostic pathways is relatively novel and less well studied.
Eligibility criteria
Show full inclusion / exclusion criteria
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)
Where this trial is running
Kingston, Ontario and 2 other locations
- Queen's University/Kingston Health Sciences Centre — Kingston, Ontario, Canada (Recruiting)
- The Ottawa Hospital — Ottawa, Ontario, Canada (Recruiting)
- Unity Health — Toronto, Ontario, Canada (Not_yet_recruiting)
Study contacts
- Principal investigator: Paula D James, MD, FRCPC — Queen's University
- Study coordinator: Julie Grabell, CCRP
- Email: grabell@queensu.ca
- Phone: 1 613 533 6000
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.