Early Genomic Testing for Inherited Bleeding Disorders

NCT06736158 | Recruiting Early Phase 1

• 2 other identifiers: 4909RDP-193724
• Study Type: interventional
• Target: 212
• Locations: 1 country
• Sites: 3

Brief Summary

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. 1.Does adding early genomic testing increase the number of patients who are diagnosed?
2. 2.Does adding early genomic testing decrease the overall time to diagnosis?
3. 3.Is it cost-effective to include early genomic testing in the diagnostic pathway?

Conditions

Bleeding Disorder

Keywords

blood coagulation disorders; bleeding disorder

Outcome Measures

Primary Outcomes (1)

• Diagnostic yield

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

  One year

Secondary Outcomes (5)

• Time to diagnosis

  One year

• Patient Burden

  One year

• Health Related Quality of Life

  One year

• Cost-effectiveness analysis

  2 years

• Budget Impact Analysis

  2 years

Study Arms (2)

Early Genomic Testing Diagnostic Pathway

EXPERIMENTAL

Participants will receive early genomic testing in addition to standard diagnostic testing.

Genetic: Genetic testing for inherited bleeding disorders

Standard Diagnostic Pathway

NO INTERVENTION

Participants will receive standard diagnostic testing with the option of receiving genomic testing after 12 months.

Interventions

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.

Early Genomic Testing Diagnostic Pathway

Eligibility Criteria

• Age: 12 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• Prior diagnosis of an inherited bleeding disorder.
• Acquired cause of bleeding (i.e., medication known to cause bleeding, significant renal or hepatic disease)

Sponsors & Collaborators

• Queen's University: lead
• Unity Health Toronto: collaborator
• The Ottawa Hospital: collaborator

Study Sites (3)

Queen's University/Kingston Health Sciences Centre

Kingston, Ontario, K7L 3N6, Canada

RECRUITING

The Ottawa Hospital

Ottawa, Ontario, K8N 1J4, Canada

RECRUITING

Unity Health

Toronto, Ontario, M5B 1W8, Canada

NOT YET RECRUITING

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MeSH Terms

Conditions

Hemostatic Disorders; Blood Coagulation Disorders

Interventions

Genetic Testing

Condition Hierarchy (Ancestors)

Vascular Diseases; Cardiovascular Diseases; Hemorrhagic Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Officials

• Paula D James, MD, FRCPC

  Queen's University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Julie Grabell, CCRP

CONTACT

1 613 533 6000; grabell@queensu.ca

Megan Chaigneau, RN

CONTACT

1 613 533 6000; megan.chaigneau@queensu.ca

Study Design

• Study Type: interventional
• Phase: early phase 1
• Allocation: RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: December 6, 2024
• First Posted: December 16, 2024
• Study Start: May 31, 2025
• Primary Completion (Estimated): December 31, 2026
• Study Completion (Estimated): April 30, 2027
• Last Updated: July 31, 2025

Record last verified: 2025-07

Data Sharing

• IPD Sharing: Will share
• Shared Documents: 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)

Locations

CA (3)