Early Genomic Testing for Inherited Bleeding Disorders
ConditionBleeding Disorder
Trial statusRecruiting
Trial phaseEarly Phase 1
Trial typeInterventional
Biological sexAll
Age12+
SponsorQueen's University
About this trial
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 criteria
Qualifiers
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.
Disqualifiers
Prior diagnosis of an inherited bleeding disorder.
Acquired cause of bleeding (i.e., medication known to cause bleeding, significant renal or hepatic disease)
Trial design
Treatments tested in this trial
- Genetic testing for inherited bleeding disorders
Treatment groups
212 Participants
are divided into 2 treatment groupsSponsors and collaborators
Source ClinicalTrials.gov