Rare Bleeding Disorders in the Netherlands

Summary

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.

Conditions

• Rare Bleeding Disorders

Interventions

GENETIC

WES

136 bleeding related OMIM (Online Mendelian Inheritance in Man)-proved genes involved in haemostasis will be selected from Whole Exome Sequencing (WES)

DIAGNOSTIC_TEST

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.

Sponsors & Collaborators

• Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)

  collaborator OTHER

• Academisch Ziekenhuis Maastricht

  collaborator OTHER

• Erasmus Medical Center

  collaborator OTHER

• Maxima Medical Center

  collaborator OTHER

• Academisch Ziekenhuis Groningen

  collaborator OTHER

• UMC Utrecht

  collaborator OTHER

• Leiden University Medical Center

  collaborator OTHER

• Haga Hospital

  collaborator OTHER

• Radboud University Medical Center

  lead OTHER

Principal Investigators

• S. Schols, PhD · Radboud University Medical Center

Eligibility

Min Age

1 Year

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2017-11-07

Primary Completion

2021-07-01

Completion

2022-01-01

Countries

• Netherlands

Study Locations