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Early Genomic Testing for Inherited Bleeding Disorders

Bleeding Disorder

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).

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Participation Requirements

  • Sex:

    ALL

  • Eligible Ages:

    12 and up

Participation 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)

Study Location

Unity Health
Unity Health
Toronto, Ontario
Canada

Contact Study Team

Primary Contact

Clinical Research Manager

[email protected]
(416) 864-5485
Queen's University/Kingston Health Sciences Centre
Queen's University/Kingston Health Sciences Centre
Kingston, Ontario
Canada

Contact Study Team

Backup Contact

Megan Chaigneau, RN

[email protected]
(613) 533-6000
Primary Contact

Julie Grabell, CCRP

[email protected]
(613) 533-6000
The Ottawa Hospital
The Ottawa Hospital
Ottawa, Ontario
Canada

Contact Study Team

Primary Contact

Amanda Pecarskie

[email protected]
(613) 737-8899
Study Sponsored By
Queen's University
Participants Required
More Information
Study ID: NCT06736158