Ignite Creation Date:
2026-03-26 @ 3:14 PM
Ignite Modification Date:
2026-03-31 @ 2:16 AM
Study NCT ID:
NCT07454161
Status:
NOT_YET_RECRUITING
Last Update Posted:
2026-03-06
First Post:
2026-03-02
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Bleeding Disorder of Unknown Cause in the Netherlands
Sponsor:
Maastricht University Medical Center
Organization:
Study Overview
Official Title:
Bleeding Disorder of Unknown Cause In the Netherlands (BDUC-iN Study)
Status:
NOT_YET_RECRUITING
Status Verified Date:
2026-03
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
BDUC-iN
Brief Summary:
The purpose of the BDUC-iN study is to learn more about unexplained bleeding in individuals with bleeding disorder of unknown cause (BDUC). We aim to better understand why these individuals have increased bleeding and how it affects their health and daily life.
The main questions of this study are:
1. What are the mechanisms underlying the bleeding tendency in BDUC?
2. How do bleeding symptoms affect patients' daily functioning and overall health-related quality of life?
3. How is care delivered to individuals with BDUC, and how can this be improved?
Participants with increased bleeding tendency who remain undiagnosed after standard coagulation testing and are consequently classified as having BDUC will be enrolled across the haemophilia treatment centers in the Netherlands. They will undergo blood sampling for advanced hemostasis testing and genetic analysis. In addition, participants will complete validated questionnaires to assess bleeding symptoms and health-related quality of life. Participants will be followed longitudinally to evaluate how bleeding affects daily activities, medical procedures, and overall health-related quality of life.
The main questions of this study are:
1. What are the mechanisms underlying the bleeding tendency in BDUC?
2. How do bleeding symptoms affect patients' daily functioning and overall health-related quality of life?
3. How is care delivered to individuals with BDUC, and how can this be improved?
Participants with increased bleeding tendency who remain undiagnosed after standard coagulation testing and are consequently classified as having BDUC will be enrolled across the haemophilia treatment centers in the Netherlands. They will undergo blood sampling for advanced hemostasis testing and genetic analysis. In addition, participants will complete validated questionnaires to assess bleeding symptoms and health-related quality of life. Participants will be followed longitudinally to evaluate how bleeding affects daily activities, medical procedures, and overall health-related quality of life.
Detailed Description:
Background: Despite advances in laboratory diagnostics, current standard hemostasis tests only identify a hemostatic defect in about 25-50% of individuals who are referred to a hemostasis specialist for evaluation of bleeding symptoms. Individuals presenting with an increased bleeding tendency and in whom no abnormalities can be found with standard laboratory hemostasis tests, and who have no other identifiable cause for their bleeding phenotype, are classified as having a bleeding disorder of unknown cause (BDUC). Persons with BDUC suffer from similar bleeding symptoms and clinical manifestations as those observed in persons with a diagnosed bleeding disorders such as von Willebrand Disease (VWD) or platelet function disorders (PFDs). In daily life, frequently experienced bleeding symptoms in patients with BDUC such as heavy menstrual bleeding or epistaxis are known to have a major impact on social functioning, school or work-related activities and consequently, result in reduced health-related quality of life. Due to a lack of knowledge about the underlying pathophysiological cause for the bleeding tendency, there is currently no clear guideline or consensus available for treatment of persons with BDUC. The lack of a clear diagnosis of BDUC is therefore challenging for both the individual and the treating physician.
Objectives: The BDUC-iN study aims to improve diagnostic accuracy and optimize treatment strategies in persons with BDUC, by evaluating the pathophysiological mechanisms underlying the bleeding tendency. Additionally, the BDUC-iN study aims to identify and evaluate healthcare delivery, patient outcomes and health-related quality of life among persons with BDUC.
Methods: We have designed a multicenter, observational cohort study involving 500 individuals with BDUC registered at or investigated in one of the six Haemophilia Treatment Centers in the Netherlands. Diagnostic, therapeutic and fundamental research questions are organized into eleven dedicated work packages. Clinical data is collected over a 10-year follow-up period to evaluate changes over time. The impact of bleeding symptoms on health-related quality of life is assessed using validated questionnaires. Advanced hemostasis and fibrinolytic testing, platelet function assessments and proteogenomics analysis are performed to characterise bleeding phenotypes and identify hemostasis defects. In addition, targeted therapeutic interventions are tested in vitro to assess their impact on platelet adhesion, thrombus formation and thrombin generation. A care pathway framework is developed, which will incorporate findings from the collected clinical, laboratory and patient-reported data, as well as additional focus groups with patients and treating physicians, with the aim of identifying areas for improvement in diagnosis and treatment management.
Objectives: The BDUC-iN study aims to improve diagnostic accuracy and optimize treatment strategies in persons with BDUC, by evaluating the pathophysiological mechanisms underlying the bleeding tendency. Additionally, the BDUC-iN study aims to identify and evaluate healthcare delivery, patient outcomes and health-related quality of life among persons with BDUC.
Methods: We have designed a multicenter, observational cohort study involving 500 individuals with BDUC registered at or investigated in one of the six Haemophilia Treatment Centers in the Netherlands. Diagnostic, therapeutic and fundamental research questions are organized into eleven dedicated work packages. Clinical data is collected over a 10-year follow-up period to evaluate changes over time. The impact of bleeding symptoms on health-related quality of life is assessed using validated questionnaires. Advanced hemostasis and fibrinolytic testing, platelet function assessments and proteogenomics analysis are performed to characterise bleeding phenotypes and identify hemostasis defects. In addition, targeted therapeutic interventions are tested in vitro to assess their impact on platelet adhesion, thrombus formation and thrombin generation. A care pathway framework is developed, which will incorporate findings from the collected clinical, laboratory and patient-reported data, as well as additional focus groups with patients and treating physicians, with the aim of identifying areas for improvement in diagnosis and treatment management.
Study Oversight
Has Oversight DMC:
True
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?: