Early genomic testing to find inherited causes of bleeding
Official title: Early Genomic Testing for Inherited Bleeding Disorders in Patients Without a Diagnosis After First Line Testing: a Randomized Controlled Trial
Run by Queen's University · NCT06736158 · Data updated 2026-11-12
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 |
| Ages | 12 Years and up |
| Sex | All |
| Enrollment | 212 (estimated) |
| Sponsor | Queen's University Academic / other |
| Locations | 3 sites (Kingston, Ontario and 2 other locations) |
| Status | Recruiting |
| Started | May 31, 2025 |
| Main results expected | December 31, 2026 |
| Study ends | April 30, 2027 |
| Registry record updated | July 31, 2025 |
| Trial ID | NCT06736158 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a 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.
✕Probably 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.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: 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.
Who can join: the full rules
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 it's running
-
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
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
Mother-and-child hemophilia A program
See if following pregnant people with a severe hemophilia A genotype and their children from pregnancy through early childhood can identify factors linked to maternal bleeding and the child’s development of anti‑FVIII antibodies.
-
ATHNdataset registry for people with bleeding and clotting disorders
This registry collects health, treatment, and patient-reported information from people with bleeding and clotting disorders seen at ATHN-affiliated centers to help improve care and outcomes.
-
Managing heavy menstrual bleeding in adolescents with hormonal treatments
This study is testing how well hormonal treatments can help teenagers with heavy menstrual bleeding, whether or not they have bleeding disorders.
-
Observational study of blood clotting and bleeding disorders in Chinese patients
This study looks at blood clotting and bleeding problems in Chinese patients to see how common they are and what factors might affect them.
-
Platform for Rare Blood Disorders in Europe
This study is trying to gather and share information about rare blood disorders across Europe to help researchers understand these conditions better and improve treatment options for patients.
-
Using recombinant von Willebrand Factor to treat bleeding in ECMO patients
This study is testing if a new treatment using recombinant von Willebrand Factor can help adults on ECMO who are having serious bleeding problems.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.