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
This trial does not accept healthy volunteersQualifiers
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
Design model
Parallel
Treatments tested in this trial
Genetic testing for inherited bleeding disorders
GeneticGene 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.
Treatment groups
212 Participants
are divided into 2 treatment groupsGroup A: Early Genomic Testing Diagnostic PathwayExperimental treatment 1 intervention
Group B: Standard Diagnostic PathwayNo intervention 0 interventions
Trial outcomes
Primary outcomes
1
Diagnostic yield
Defined as the proportion of patients who achieve a final diagnosis at one year.
Time frame
One yearSecondary outcomes
1
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 year2
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 year3
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 year4
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 yearsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Source ClinicalTrials.gov