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NCT Number: NCT06736158

Early Genomic Testing for Inherited Bleeding Disorders

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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Key information

Conditions

Bleeding Disorder Blood Coagulation Disorders Cardiovascular Diseases Hematologic Diseases Hemic and Lymphatic Diseases Hemorrhagic Disorders Hemostatic Disorders Vascular Diseases

Age range

12 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Early Phase 1

Primary location

Queen's University/Kingston Health Sciences Centre, Kingston, Ontario, Canada

Loading trial locations.

About this 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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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)

Treatment and study plan

Genetic testing for inherited bleeding disorders

Genetic

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.

Primary outcomes

  1. Diagnostic yield

    Time frame: One year

    Defined as the proportion of patients who achieve a final diagnosis at one year.

Secondary outcomes

  1. Time to diagnosis

    Time frame: One year

    The amount of time in weeks and/or months between initial Hematology visit and achieving a diagnosis of an inherited bleeding disorder

  2. Patient Burden

    Time frame: One year

    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).

  3. Health Related Quality of Life

    Time frame: One year

    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.

  4. Cost-effectiveness analysis

    Time frame: 2 years

    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.

  5. Budget Impact Analysis

    Time frame: 2 years

    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.

Study contacts

Contact information is provided by the study sponsor or research team.

Julie Grabell, CCRP

CONTACT

[email protected]

1 613 533 6000 ext. 75223

Megan Chaigneau, RN

CONTACT

[email protected]

1 613 533 6000 ext. 75223

Sponsors and collaborators

Lead sponsor

Queen's University

Other

Collaborators

  • The Ottawa Hospital
  • Unity Health Toronto

Registry information

Official study title

Early Genomic Testing for Inherited Bleeding Disorders in Patients Without a Diagnosis After First Line Testing: a Randomized Controlled Trial

Acronym: GT4BD

Important dates

Study start
2025
Primary completion
2026
Study completion
2027
First posted
Dec 16, 2024
Registry last updated
Jul 31, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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