Bleeding DisorderEarly Phase 1GT4BDNCT06736158
Early Genomic Testing for Inherited Bleeding Disorders
A Early Phase 1 study testing Genetic testing for inherited bleeding disorders in people with Bleeding Disorder, run by Queen's University at 3 sites in Canada.
Trial 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. Read more about this study
- Who is it for?
- Ages 12 years and older
- Conditions the study is for
- Bleeding Disorder
- What is being tested?
- Genetic testing for inherited bleeding disorders
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 212 participants
- Where
- 3 sitesCanada
- Study dates
- 31 May 2025to 30 Apr 2027
- Phase
- Early Phase 1
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 12 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- Prior diagnosis of an inherited bleeding disorder.
- Acquired cause of bleeding (i.e., medication known to cause bleeding, significant renal or hepatic disease)
Trial locations and contacts
3 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Canada3 sites, 3 recruiting
- Recruiting
Queen's University/Kingston Health Sciences Centre
Kingston, Ontario, K7L 3N6
Julie Grabell, CCRP, +16135336000 ext. 75223, grabell@queensu.ca
Megan Chaigneau, RN, +16135336000 ext. 75223, megan.chaigneau@queensu.ca
- Recruiting
The Ottawa Hospital
Ottawa, Ontario, K8N 1J4
Amanda Pecarskie, +16137378899, apecarskie@ohri.ca
Roy Khalifé, MD
- Not yet recruiting
Unity Health
Toronto, Ontario, M5B 1W8
Clinical Research Manager, +1 416-864-5485, Mercy.charles@unityhealth.to
Michelle Sholzberg, MDCM, FRCPC
About this study
Official title: Early Genomic Testing for Inherited Bleeding Disorders in Patients Without a Diagnosis After First Line Testing: a Randomized Controlled 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:
Read more
- Does adding early genomic testing increase the number of patients who are diagnosed?
- Does adding early genomic testing decrease the overall time to diagnosis?
- 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).
Read the detailed description
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.
- Conditions
- Bleeding Disorder
- Being tested
- Genetic testing for inherited bleeding disorders
- Keywords
- blood coagulation disorders, bleeding disorder
- Medical subject headings
- Hemostatic Disorders, Blood Coagulation Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic testing for inherited bleeding disordersGenetic
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.
| Study group | Role | What they receive |
|---|---|---|
| Early Genomic Testing Diagnostic Pathway | Experimental | Participants will receive early genomic testing in addition to standard diagnostic testing. Receives: 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Diagnostic yield
Defined as the proportion of patients who achieve a final diagnosis at one year.
Measured: One year
Secondary outcomes (5)
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
Measured: 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).
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Dec 2024
- Study start31 May 2025
- Primary completion31 Dec 2026 (estimated)
- Study completion30 Apr 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (48)Papers the sponsor has linked to this study.
- Other trials for Bleeding DisorderStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Early Phase 1
- Primary purpose
- Diagnosis
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 212 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Queen's University
- Sponsor type
- University, hospital or other
- Collaborators
- Unity Health Toronto, The Ottawa Hospital
- Responsible party
- Principal investigator, Dr. Paula James, Queen's University
- Investigators
- Paula D James, MD, FRCPC, Principal investigator, Queen's University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06736158
- Sponsor's protocol ID
- 4909
- Other IDs
- RDP-193724
- Acronym
- GT4BD
- Status last verified
- Jul 2025
- First submitted
- 6 Dec 2024
- Last updated
- 31 Jul 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: all (Individual Participant Data) IPD that underlie results in a publication
Publications
Elbatarny M, Mollah S, Grabell J, Bae S, Deforest M, Tuttle A, Hopman W, Clark DS, Mauer AC, Bowman M, Riddel J, Christopherson PA, Montgomery RR; Zimmerman Program Investigators; Rand ML, Coller B, James PD. Normal range of bleeding scores for the ISTH-BAT: adult and pediatric data from the merging project. Haemophilia. 2014 Nov;20(6):831-5. doi: 10.1111/hae.12503. Epub 2014 Sep 6.
PubMed 25196510Castle D, Desborough MJR, Kemp M, Lowe G, Thomas W, Obaji S. Outcomes and management of pregnancy in women with bleeding disorder of unknown cause. J Thromb Haemost. 2022 Nov;20(11):2519-2525. doi: 10.1111/jth.15871. Epub 2022 Sep 21.
PubMed 36053176Arya S, Wilton P, Page D, Boma-Fischer L, Floros G, Winikoff R, Teitel J, Dainty K, Sholzberg M. "Everything was blood when it comes to me": Understanding the lived experiences of women with inherited bleeding disorders. J Thromb Haemost. 2020 Dec;18(12):3211-3221. doi: 10.1111/jth.15102. Epub 2020 Oct 21.
PubMed 32979008Andres O, Konig EM, Althaus K, Bakchoul T, Bugert P, Eber S, Knofler R, Kunstmann E, Manukjan G, Meyer O, Strauss G, Streif W, Thiele T, Wiegering V, Klopocki E, Schulze H; THROMKIDplus Study Group of the Society of Paediatric Oncology Haematology (Gesellschaft fur Padiatrische Onkologie und Hamatologie, GPOH) and the Society of Thrombosis Haemostasis Research (Gesellschaft fur Thrombose- und Hamostaseforschung, GTH). Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder. TH Open. 2018 Dec 30;2(4):e445-e454. doi: 10.1055/s-0038-1676813. eCollection 2018 Oct.
PubMed 31249973Downes K, Borry P, Ericson K, Gomez K, Greinacher A, Lambert M, Leinoe E, Noris P, Van Geet C, Freson K; Subcommittee on Genomics in Thrombosis, Hemostasis. Clinical management, ethics and informed consent related to multi-gene panel-based high throughput sequencing testing for platelet disorders: Communication from the SSC of the ISTH. J Thromb Haemost. 2020 Oct;18(10):2751-2758. doi: 10.1111/jth.14993.
PubMed 33079472Kim SH, Kim SO, Lee SI, Jo MW. Deriving a mapping algorithm for converting SF-36 scores to EQ-5D utility score in a Korean population. Health Qual Life Outcomes. 2014 Sep 24;12:145. doi: 10.1186/s12955-014-0145-9.
PubMed 25248494Briggs A, Sculpher M, Claxton K. Decision modelling for health economic evaluation. Oup Oxford; 2006.
Sullivan SD, Mauskopf JA, Augustovski F, Jaime Caro J, Lee KM, Minchin M, Orlewska E, Penna P, Rodriguez Barrios JM, Shau WY. Budget impact analysis-principles of good practice: report of the ISPOR 2012 Budget Impact Analysis Good Practice II Task Force. Value Health. 2014 Jan-Feb;17(1):5-14. doi: 10.1016/j.jval.2013.08.2291. Epub 2013 Dec 13.
PubMed 24438712Drummond MF, Sculpher MJ, Claxton K, Stoddart GL, Torrance GW. Methods for the economic evaluation of health care programmes. Oxford university press; 2015.
Miller DT, Lee K, Abul-Husn NS, Amendola LM, Brothers K, Chung WK, Gollob MH, Gordon AS, Harrison SM, Hershberger RE, Klein TE, Richards CS, Stewart DR, Martin CL; ACMG Secondary Findings Working Group. Electronic address: documents@acmg.net. ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2022 Jul;24(7):1407-1414. doi: 10.1016/j.gim.2022.04.006. Epub 2022 Jun 17. No abstract available.
PubMed 35802134Halldorsson BV, Eggertsson HP, Moore KHS, Hauswedell H, Eiriksson O, Ulfarsson MO, Palsson G, Hardarson MT, Oddsson A, Jensson BO, Kristmundsdottir S, Sigurpalsdottir BD, Stefansson OA, Beyter D, Holley G, Tragante V, Gylfason A, Olason PI, Zink F, Asgeirsdottir M, Sverrisson ST, Sigurdsson B, Gudjonsson SA, Sigurdsson GT, Halldorsson GH, Sveinbjornsson G, Norland K, Styrkarsdottir U, Magnusdottir DN, Snorradottir S, Kristinsson K, Sobech E, Jonsson H, Geirsson AJ, Olafsson I, Jonsson P, Pedersen OB, Erikstrup C, Brunak S, Ostrowski SR; DBDS Genetic Consortium; Thorleifsson G, Jonsson F, Melsted P, Jonsdottir I, Rafnar T, Holm H, Stefansson H, Saemundsdottir J, Gudbjartsson DF, Magnusson OT, Masson G, Thorsteinsdottir U, Helgason A, Jonsson H, Sulem P, Stefansson K. The sequences of 150,119 genomes in the UK Biobank. Nature. 2022 Jul;607(7920):732-740. doi: 10.1038/s41586-022-04965-x. Epub 2022 Jul 20.
PubMed 35859178Gudmundsson S, Singer-Berk M, Watts NA, Phu W, Goodrich JK, Solomonson M; Genome Aggregation Database Consortium; Rehm HL, MacArthur DG, O'Donnell-Luria A. Variant interpretation using population databases: Lessons from gnomAD. Hum Mutat. 2022 Aug;43(8):1012-1030. doi: 10.1002/humu.24309. Epub 2021 Dec 16.
PubMed 34859531Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
PubMed 25741868Rydz N, Leggo J, Tinlin S, James P, Lillicrap D. The Canadian "National Program for hemophilia mutation testing" database: a ten-year review. Am J Hematol. 2013 Dec;88(12):1030-4. doi: 10.1002/ajh.23557. Epub 2013 Sep 9.
PubMed 23913812Sivapalaratnam S, Collins J, Gomez K. Diagnosis of inherited bleeding disorders in the genomic era. Br J Haematol. 2017 Nov;179(3):363-376. doi: 10.1111/bjh.14796. Epub 2017 Jun 14.
PubMed 28612396
Study at a glance
From the registry record, last updated by the sponsor on 31 Jul 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Early Genomic Testing for Inherited Bleeding Disorders in Patients Without a Diagnosis After First Line Testing: a Randomized Controlled Trial
- ClinicalTrials.gov ID
- NCT06736158
- Acronym / sponsor ID
- GT4BD / 4909
- Conditions
- Bleeding Disorder
- Keywords
- blood coagulation disorders, bleeding disorder
- Phase
- Early Phase 1
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 212 participants (estimated)
- Lead sponsor
- Queen's UniversityUniversity, hospital or other
- Collaborators
- Unity Health Toronto, The Ottawa Hospital
- Study start
- 31 May 2025 (actual)
- Primary completion
- 31 Dec 2026 (estimated)
- Study completion
- 30 Apr 2027 (estimated)
- First posted
- 16 Dec 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- Does adding early genomic testing increase the number of patients who are diagnosed?
- Does adding early genomic testing decrease the overall time to diagnosis?
- 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).
Detailed description
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.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Early Genomic Testing Diagnostic Pathway | Experimental | Genetic: Genetic testing for inherited bleeding disordersParticipants will receive early genomic testing in addition to standard diagnostic testing. |
| Standard Diagnostic Pathway | No intervention | –Participants will receive standard diagnostic testing with the option of receiving genomic testing after 12 months. |
Who may qualify
- Ages
- 12 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (2 listed)
- Prior diagnosis of an inherited bleeding disorder.
- Acquired cause of bleeding (i.e., medication known to cause bleeding, significant renal or hepatic disease)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Genetic testing for inherited bleeding disordersGene 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. | Genetic | Early Genomic Testing Diagnostic Pathway |
Primary outcome
Diagnostic yield
Time frame: One year
Defined as the proportion of patients who achieve a final diagnosis at one year.
5 secondary outcomes
Time to diagnosis
Time frame: One year
Patient Burden
Time frame: One year
Health Related Quality of Life
Time frame: One year
Cost-effectiveness analysis
Time frame: 2 years
Budget Impact Analysis
Time frame: 2 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 31 Jul 2025.
- Background: PubMed 25196510Elbatarny M, Mollah S, Grabell J, Bae S, Deforest M, Tuttle A, Hopman W, Clark DS, Mauer AC, Bowman M, Riddel J, Christopherson PA, Montgomery RR; Zimmerman Program Investigators; Rand ML, Coller B, James PD. Normal range of bleeding scores for the ISTH-BAT: adult and pediatric data from the merging project. Haemophilia. 2014 Nov;20(6):831-5. doi: 10.1111/hae.12503. Epub 2014 Sep 6.
- Background: PubMed 36053176Castle D, Desborough MJR, Kemp M, Lowe G, Thomas W, Obaji S. Outcomes and management of pregnancy in women with bleeding disorder of unknown cause. J Thromb Haemost. 2022 Nov;20(11):2519-2525. doi: 10.1111/jth.15871. Epub 2022 Sep 21.
- Background: PubMed 32979008Arya S, Wilton P, Page D, Boma-Fischer L, Floros G, Winikoff R, Teitel J, Dainty K, Sholzberg M. "Everything was blood when it comes to me": Understanding the lived experiences of women with inherited bleeding disorders. J Thromb Haemost. 2020 Dec;18(12):3211-3221. doi: 10.1111/jth.15102. Epub 2020 Oct 21.
- Background: PubMed 31249973Andres O, Konig EM, Althaus K, Bakchoul T, Bugert P, Eber S, Knofler R, Kunstmann E, Manukjan G, Meyer O, Strauss G, Streif W, Thiele T, Wiegering V, Klopocki E, Schulze H; THROMKIDplus Study Group of the Society of Paediatric Oncology Haematology (Gesellschaft fur Padiatrische Onkologie und Hamatologie, GPOH) and the Society of Thrombosis Haemostasis Research (Gesellschaft fur Thrombose- und Hamostaseforschung, GTH). Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder. TH Open. 2018 Dec 30;2(4):e445-e454. doi: 10.1055/s-0038-1676813. eCollection 2018 Oct.
- Background: PubMed 33079472Downes K, Borry P, Ericson K, Gomez K, Greinacher A, Lambert M, Leinoe E, Noris P, Van Geet C, Freson K; Subcommittee on Genomics in Thrombosis, Hemostasis. Clinical management, ethics and informed consent related to multi-gene panel-based high throughput sequencing testing for platelet disorders: Communication from the SSC of the ISTH. J Thromb Haemost. 2020 Oct;18(10):2751-2758. doi: 10.1111/jth.14993.
- Background: PubMed 25248494Kim SH, Kim SO, Lee SI, Jo MW. Deriving a mapping algorithm for converting SF-36 scores to EQ-5D utility score in a Korean population. Health Qual Life Outcomes. 2014 Sep 24;12:145. doi: 10.1186/s12955-014-0145-9.
- BackgroundBriggs A, Sculpher M, Claxton K. Decision modelling for health economic evaluation. Oup Oxford; 2006.
- Background: PubMed 24438712Sullivan SD, Mauskopf JA, Augustovski F, Jaime Caro J, Lee KM, Minchin M, Orlewska E, Penna P, Rodriguez Barrios JM, Shau WY. Budget impact analysis-principles of good practice: report of the ISPOR 2012 Budget Impact Analysis Good Practice II Task Force. Value Health. 2014 Jan-Feb;17(1):5-14. doi: 10.1016/j.jval.2013.08.2291. Epub 2013 Dec 13.
- BackgroundDrummond MF, Sculpher MJ, Claxton K, Stoddart GL, Torrance GW. Methods for the economic evaluation of health care programmes. Oxford university press; 2015.
- Background: PubMed 35802134Miller DT, Lee K, Abul-Husn NS, Amendola LM, Brothers K, Chung WK, Gollob MH, Gordon AS, Harrison SM, Hershberger RE, Klein TE, Richards CS, Stewart DR, Martin CL; ACMG Secondary Findings Working Group. Electronic address: documents@acmg.net. ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2022 Jul;24(7):1407-1414. doi: 10.1016/j.gim.2022.04.006. Epub 2022 Jun 17. No abstract available.
- Background: PubMed 35859178Halldorsson BV, Eggertsson HP, Moore KHS, Hauswedell H, Eiriksson O, Ulfarsson MO, Palsson G, Hardarson MT, Oddsson A, Jensson BO, Kristmundsdottir S, Sigurpalsdottir BD, Stefansson OA, Beyter D, Holley G, Tragante V, Gylfason A, Olason PI, Zink F, Asgeirsdottir M, Sverrisson ST, Sigurdsson B, Gudjonsson SA, Sigurdsson GT, Halldorsson GH, Sveinbjornsson G, Norland K, Styrkarsdottir U, Magnusdottir DN, Snorradottir S, Kristinsson K, Sobech E, Jonsson H, Geirsson AJ, Olafsson I, Jonsson P, Pedersen OB, Erikstrup C, Brunak S, Ostrowski SR; DBDS Genetic Consortium; Thorleifsson G, Jonsson F, Melsted P, Jonsdottir I, Rafnar T, Holm H, Stefansson H, Saemundsdottir J, Gudbjartsson DF, Magnusson OT, Masson G, Thorsteinsdottir U, Helgason A, Jonsson H, Sulem P, Stefansson K. The sequences of 150,119 genomes in the UK Biobank. Nature. 2022 Jul;607(7920):732-740. doi: 10.1038/s41586-022-04965-x. Epub 2022 Jul 20.
- Background: PubMed 34859531Gudmundsson S, Singer-Berk M, Watts NA, Phu W, Goodrich JK, Solomonson M; Genome Aggregation Database Consortium; Rehm HL, MacArthur DG, O'Donnell-Luria A. Variant interpretation using population databases: Lessons from gnomAD. Hum Mutat. 2022 Aug;43(8):1012-1030. doi: 10.1002/humu.24309. Epub 2021 Dec 16.
- Individual participant dataSharing planned: Yes. all (Individual Participant Data) IPD that underlie results in a publication
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Paula D James, MD, FRCPC principal investigator
Queen's University
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Early Phase 1 study testing Genetic testing for inherited bleeding disorders in people with Bleeding Disorder, run by Queen's University at 3 sites in Canada.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 31 Jul 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Early Phase 1 (sometimes called Phase 0) studies give a very small amount of a treatment to a few people, mainly to see how the body handles it.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Julie Grabell, CCRP (1 613 533 6000 ext. 75223, grabell@queensu.ca), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Diagnostic yield (time frame: One year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06736158, which also lists 48 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 31 Jul 2025.