An Early Phase 1 interventional study of Genetic testing for inherited bleeding disorders in Bleeding Disorder, sponsored by Queen's University. Recruiting at 3 sites in Canada. Open to participants aged 12 Years and older. Per ClinicalTrials.gov, last updated 2025-07-31.
Sponsored by Queen's University · Early Phase 1, Interventional, and Diagnostic
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:
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).
With the current standardized diagnostic testing process up to 50% of people referred with significant bleeding symptoms will be classified as bleeding disorder of unknown cause (BDUC), defined as those with a positive bleeding score but in whom all current diagnostic test results are repeatedly normal. Incorporating genomic testing early in the diagnostic pathway could significantly improve diagnostic yield, reduce diagnostic delay, alleviate patient anxiety, and allow for more prompt symptom recognition and targeted treatment.
361 studies on the registry are indexed under Hemostatic Disorders; 65 are open to participants now.
This study's planned enrollment of 212 is above the median of 60 across 171 interventional studies indexed under Hemostatic Disorders.
Browse Hemostatic Disorders studies →Queen's University is the lead sponsor of 207 studies on the registry; 16 are open to participants now.
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Exclusion Criteria:
Participants will receive early genomic testing in addition to standard diagnostic testing.
Genetic: Genetic testing for inherited bleeding disorders
Participants will receive standard diagnostic testing with the option of receiving genomic testing after 12 months.
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.
Diagnostic yield
Defined as the proportion of patients who achieve a final diagnosis at one year.
Time frame: One year
Time to diagnosis
The amount of time in weeks and/or months between initial Hematology visit and achieving a diagnosis of an inherited bleeding disorder
Time frame: One year
Patient Burden
This will be captured by patient reported survey. Will include data on: number of appointments for diagnosis, number of blood draws, travel (distance, mode, associated costs) and productivity loss questions (e.g. time spent away from work, wages lost, child/elder care costs).
Time frame: One year
Health Related Quality of Life
Will be determined using the PROMIS (Patient Reported Outcome Measurement Information System) Profile CAT (Computer Adaptive Testing) v1.0 - 29 for participants 18 and older, and the PROMIS Pediatric Profile GenPop (General Population) v3.0 - Profile-25 for participants 12-17. Each section consists of four items with five-point descriptive scales, except for pain intensity which has a 0-10 numerical rating scale. The sum of the item responses for each multi-item category is converted to a T-score where a score of 50 is the average for the US general population with a standard deviation of 10. Higher scores represent more of something. Therefore, for physical function, higher scores represent better health whereas for anxiety, higher scores represent poorer health.
Time frame: One year
Cost-effectiveness analysis
Will be measured by estimating the cost-effectiveness of the early genomic testing pathway compared with the standard diagnostic pathway (cost per diagnosis). This will be done by calculating the costs for each pathway along with the number of cases detected.
Time frame: 2 years
Budget Impact Analysis
Economic Impact will be measured by a budget impact analysis. This will be conducted from the healthcare system's perspective using standard techniques. In this model-based analysis, the incremental cost of testing for both the control and intervention arm will be determined, which will allow for detailed analysis on the economic impact of inserting genomic testing at different time points along the diagnostic algorithm.
Time frame: 2 years
Plan to share: Yes — all (Individual Participant Data) IPD that underlie results in a publication
Supporting information: Study protocol
Time frame: IPD and supporting information will be available once manuscript is accepted for publication and will be available indefinitely.
Access criteria: Access to trial IPD can be requested by qualified researchers engaging in independent scientific research, and will be provided following review and approval of a research proposal and Statistical Analysis Plan (SAP) and execution of a Data Sharing Agreement (DSA)
Started May 2025 (actual). Primary completion is estimated for Dec 2026, 19 months after the start.
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