Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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UNKNOWN
300 participants
OBSERVATIONAL
2017-11-07
2022-01-01
Brief Summary
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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.
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Detailed Description
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* Describe the epidemiology, clinical presentation, bleeding score, bleeding episodes, quality of life, laboratory parameters, genetics and treatment of homozygous and known heterozygous individuals (of all ages) with rare bleeding disorders (disorders of fibrinogen, FII, FV, FV \& VIII, FVII, FX, FXI, FXIII, alpha-2-antiplasmin and PAI-1 deficiency) in the Netherlands;
* Examine the relationship between the clinical and laboratory presentation (clinical and laboratory phenotype), and between phenotypes and genetics (genotype);
* Examine the relationship between quality of life, phenotype and genotype;
* Validate the established factor activity levels for patients to remain without symptoms.
Secondary objectives:
* Compare the clinical presentation, bleeding score, quality of life and laboratory parameters of individuals with a rare bleeding disorder (disorders of fibrinogen, FII, FV, FV \& VIII, FVII, FX, FXI, FXIII, alpha-2-antiplasmin and PAI-1 deficiency) to those of individuals with haemophilia A or B in cooperation with the HIN-6 investigators
* Establish a firm base for a future Dutch registry for homozygous and known heterozygous individuals with rare bleeding disorders
* To develop a standard set of patient-reported, clinical and administrative data to be collected on a regular basis
* Liaise with the pro-RBDD study, a similar study in Italy, to work towards a pan-European study linking phenotype to genotype in individuals with rare bleeding disorders
* To assess if the NHA can distinguish mild clinical phenotypes in patients with similar factor activity levels
* To evaluate the usefulness of saliva coagulation biomarker tests in the management of patients with a rare bleeding disorder
* 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
* To evaluate if patients with rare bleeding disorders are protected from arterial thrombosis
Conditions
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Study Design
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CASE_ONLY
CROSS_SECTIONAL
Study Groups
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Patients with rare bleeding disorders
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.
WES
136 bleeding related OMIM (Online Mendelian Inheritance in Man)-proved genes involved in haemostasis will be selected from Whole Exome Sequencing (WES)
Several assays
Patients will be approached by their own treating physician. Data will be collected through questionnaires, a clinical interview, a blood and saliva sample obtained from each participant, and thorough review of electronic patient records. All procedures are study related. In case a physician visit with the treating physician is already planned, or in case a venepuncture for regular diagnostics or treatment is already planned, this can be combined with the study procedures to prevent an extra visit.
Interventions
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WES
136 bleeding related OMIM (Online Mendelian Inheritance in Man)-proved genes involved in haemostasis will be selected from Whole Exome Sequencing (WES)
Several assays
Patients will be approached by their own treating physician. Data will be collected through questionnaires, a clinical interview, a blood and saliva sample obtained from each participant, and thorough review of electronic patient records. All procedures are study related. In case a physician visit with the treating physician is already planned, or in case a venepuncture for regular diagnostics or treatment is already planned, this can be combined with the study procedures to prevent an extra visit.
Other Intervention Names
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Eligibility Criteria
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Inclusion Criteria
* 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
* Residency outside of the Netherlands
1 Year
ALL
No
Sponsors
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Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
OTHER
Academisch Ziekenhuis Maastricht
OTHER
Erasmus Medical Center
OTHER
Maxima Medical Center
OTHER
Academisch Ziekenhuis Groningen
OTHER
UMC Utrecht
OTHER
Leiden University Medical Center
OTHER
Haga Hospital
OTHER
Radboud University Medical Center
OTHER
Responsible Party
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Principal Investigators
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S. Schols, PhD
Role: PRINCIPAL_INVESTIGATOR
Radboud University Medical Center
Locations
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Academisch Medisch Centrum
Amsterdam, , 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, , Netherlands
Haga hospital
The Hague, , Netherlands
Countries
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Central Contacts
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Facility Contacts
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Laurens Nieuwenhuizen, PhD
Role: primary
References
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Saes JL, Verhagen MJA, Meijer K, Cnossen MH, Schutgens REG, Peters M, Nieuwenhuizen L, van der Meer FJM, Kruis IC, van Heerde WL, Schols SEM. Bleeding severity in patients with rare bleeding disorders: real-life data from the RBiN study. Blood Adv. 2020 Oct 27;4(20):5025-5034. doi: 10.1182/bloodadvances.2020002740.
Provided Documents
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Document Type: Study Protocol and Statistical Analysis Plan
Other Identifiers
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HEMSTOL47
Identifier Type: -
Identifier Source: org_study_id
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