Genetic Testing for Bleeding Disorders

(GT4BD Trial)

Recruiting at 2 trial locations

Overseen By Megan Chaigneau, RN

Age: Any Age

Sex: Any

Trial Phase: Academic

Sponsor: Queen's University

Must not be taking: Blood thinners

Disqualifiers: Inherited bleeding disorder, Renal, Hepatic, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: Unknown

212 Participants Needed

Trial Summary

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications. However, if you are taking medications known to cause bleeding, you may be excluded from participating.

What data supports the effectiveness of genetic testing for inherited bleeding disorders as a treatment?

Genetic testing for inherited bleeding disorders is effective because it helps confirm diagnoses, distinguishes between similar conditions, and identifies genetic causes of bleeding, which can improve clinical care and treatment decisions. Advances in genetic testing technology, like next generation sequencing, allow for accurate identification of bleeding disorders, making it a valuable tool in diagnosing and managing these conditions. ^{1 2 3 4 5}

Is genetic testing for bleeding disorders safe for humans?

Genetic testing for bleeding disorders is generally considered safe, as it involves analyzing DNA to confirm diagnoses and identify genetic mutations. It does not involve the use of medications or treatments that could cause adverse effects. ^{1 4 6 7 8}

How does genetic testing for bleeding disorders differ from other treatments?

Genetic testing for bleeding disorders is unique because it focuses on identifying the underlying genetic causes of the condition, which can lead to a more accurate diagnosis and personalized treatment plan. Unlike traditional methods that rely on clinical assessments and lab tests, genetic testing can detect specific genetic mutations and help in genetic counseling and prenatal diagnosis. ^{1 2 3 5 9}

What is the purpose of 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).

Research Team

Paula D James, MD, FRCPC

Principal Investigator

Queen's University

Eligibility Criteria

This trial is for patients with suspected inherited bleeding disorders who haven't been diagnosed after initial tests. It's open to those referred to Hematology and requires participants not yet having a confirmed diagnosis of their condition.

Inclusion Criteria

I am seeing a doctor because I have abnormal bleeding.

I have a history of abnormal bleeding, confirmed by a specialist.

Exclusion Criteria

I have been diagnosed with a hereditary bleeding disorder.

I have a bleeding condition due to medication or liver/kidney disease.

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Diagnostic Testing

Participants undergo standard diagnostic testing with or without early genomic testing

1 year

Multiple visits as needed for diagnostic testing

Follow-up

Participants are monitored for diagnostic outcomes and health-related quality of life

1 year

Regular follow-up visits to assess outcomes

Economic Analysis

Economic implications and cost-effectiveness of genomic testing are analyzed

2 years

Treatment Details

Interventions

• Genetic testing for inherited bleeding disorders

Trial Overview The study is examining if early genomic testing can help diagnose inherited bleeding disorders faster and more effectively compared to standard care. Participants are randomly assigned to either receive early genomic testing along with standard diagnostic tests or just the standard tests, with a later option for genomic testing.

Participant Groups

Group I: Early Genomic Testing Diagnostic Pathway Experimental Treatment 1 Intervention

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

Group II: Standard Diagnostic Pathway Active Control 1 Intervention

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

Who Is Running the Clinical Trial?

Queen's University

Lead Sponsor

Trials

382

Recruited

122,000+

Queen's University

Lead Sponsor

Kingston Health Sciences Centre

Lead Sponsor

Trials

312

Recruited

112,000+

The Ottawa Hospital

Collaborator

Trials

97

Recruited

64,000+

Unity Health Toronto

Collaborator

Trials

572

Recruited

470,000+

References

1. England pubmed.ncbi.nlm.nih.gov

Molecular testing for disorders of hemostasis. [2021]

2. England pubmed.ncbi.nlm.nih.gov

Diagnosis of haemophilia and other inherited bleeding disorders - Is a new paradigm needed? [2021]

3. England pubmed.ncbi.nlm.nih.gov

Diagnosis of inherited bleeding disorders in the genomic era. [2021]

4. England pubmed.ncbi.nlm.nih.gov

Patient-reported outcomes in autosomal inherited bleeding disorders: A systematic literature review. [2022]

5. England pubmed.ncbi.nlm.nih.gov

Hemophilia: a practical approach to genetic testing. [2013]

6. England pubmed.ncbi.nlm.nih.gov

Safety surveillance in haemophilia and allied disorders. [2017]

7. Italy pubmed.ncbi.nlm.nih.gov

Inherited bleeding disorders: results from the Italian Regional Haemophilia Centre of Pescara. [2021]

8. United States pubmed.ncbi.nlm.nih.gov

Genetic sequence analysis of inherited bleeding diseases. [2022]

9. England pubmed.ncbi.nlm.nih.gov

Genetics of haemostasis. [2012]