Rare Bleeding Disorders Clinical Trial
— RBINOfficial title:
Rare Bleeding Disorders in the Netherlands
| NCT number | NCT03347591 |
| Other study ID # | HEMSTOL47 |
| Secondary ID | |
| Status | Recruiting |
| Phase | |
| First received | |
| Last updated | |
| Start date | November 7, 2017 |
| Est. completion date | January 1, 2022 |
Rationale: Rare bleeding disorders (deficiency of fibrinogen, factor II, V, V&VIII, VII, X, XI, XIII, α2-antiplasmin or plasminogen activator inhibitor 1) are not well defined with respect to their clinical phenotype, laboratory phenotype en genotype. At present, little is known about their clinical presentation, bleeding scores, bleeding episodes, health-related quality of life, laboratory parameters, genetics and current treatment. There are large differences in bleeding tendency and weak correlations with the level of factor deficiencies. Therefore, it is essential to perform thorough research in patients with rare bleeding disorders and perform laboratory and genetic tests, to seek explanations for the variety in clinical phenotype. Objective: The purpose of the RBIN study is to describe the epidemiology, bleeding tendency, laboratory parameters, quality of life and genetics of all known patients in the Netherlands with rare bleeding disorders. In addition, the study aims to examine the relationship between clinical phenotype, laboratory phenotype and genotype. Study design: explorative cross-sectional multicenter observational study Study population: all patients registered in Dutch Haemophilia Treatment Centers with known disorders of the coagulation factors fibrinogen, factor II, V, V & VIII, VII, X, XI, XIII, α2-antiplasmin and plasminogen activator inhibitor type 1, aged 1 years and older. Main study parameters/endpoints: Description of the clinical phenotype, laboratory phenotype, genotype and quality of life. Nature and extent of the burden and risks associated with participation, benefit and group relatedness: participating patients will be invited for one visit to their treatment center in order to draw blood, take a saliva sample and perform questionnaires. This will take approximately 40 to 120 minutes. Since the population of patients with rare bleeding disorders is very small it is important to include all patients, also minors (children <18 years), in the study (around one third of known patients are minors). Therefore, this study may be regarded as group-related. The risk associated with participation is negligible.
| Status | Recruiting |
| Enrollment | 300 |
| Est. completion date | January 1, 2022 |
| Est. primary completion date | July 1, 2021 |
| Accepts healthy volunteers | No |
| Gender | All |
| Age group | 1 Year and older |
| Eligibility | Inclusion Criteria: - Established homozygous or known heterozygous rare bleeding disorder due to deficiency or dysfunction of fibrin, FII, FV, FV & FVIII, FVII, FX, FXI, FXIII, alpha-2-antiplasmin and PAI-1 ; - Age 1 year and older; - For patients = 16 years old; written informed consent. - For patients 12-16 years old; written informed consent from both the patient and their parents/legal guardian(s). - For patients <12 years old; written informed consent from their parents/legal guardian(s). Exclusion Criteria: - No informed consent given; - Residency outside of the Netherlands |
| Country | Name | City | State |
|---|---|---|---|
| Netherlands | Academisch Medisch Centrum | Amsterdam | |
| Netherlands | Haga hospital | Den Haag | |
| Netherlands | Maxima Medisch Centrum | Eindhoven | |
| Netherlands | University Medical Center Groningen (UMCG) | Groningen | |
| Netherlands | Maatricht UMC+ | Maastricht | |
| Netherlands | Radboud university medical center | Nijmegen | |
| Netherlands | Erasmus MC | Rotterdam |
| Lead Sponsor | Collaborator |
|---|---|
| Radboud University | Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA), Academisch Ziekenhuis Groningen, Academisch Ziekenhuis Maastricht, Erasmus Medical Center, Haga Hospital, Leiden University Medical Center, Maxima Medical Center, UMC Utrecht |
Netherlands,
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | Epidemiology | Determine the prevalence of rare bleeding disorders in the Netherlands by evaluating all patients known in all Dutch Haemophilia Treatment Centers | 1 year | |
| Primary | Phenotype | Clinical phenotype will be measured by bleeding scores measured as ISTH-BAT. | 1 year | |
| Primary | Laboratory phenotype | Measure the factor concentrations of all patients known with a Rare Bleeding Disorder in the Netherlands | 1 year | |
| Primary | Quality of Life | Quality of life will be measured using the RAND-36 questionnaire | 2 years | |
| Primary | Genotype | Determine the genotype of patients (homozygous, heterozygous, compound heterozygous) by whole exome sequencing | 2 years | |
| Secondary | Minimum factor level | The minimum factor level necessary to remain without bleeding will be calculated by measuring factor levels in all patients and their bleeding scores by ISTH-BAT | 1 year | |
| Secondary | Age | To examine whether age-dependent laboratory changes in factor concentrations and fibrinolysis occur in individuals with rare bleeding disorders and if so, whether they influence clinical phenotype. | 1 Year |