Prospective data collection on patients with rare bleeding disorders (PRO-RBDD)

Rare Bleeding Disorders (RBDs), like fibrinogen, factor II, factor V, factor
V+VIII, factor VII, factor X, factor XI and factor XIII deficiencies, are
relatively rare in Western Countries (1 : 0,5-2 million). Inadequate therapy is
associated with severe musculoskeletal handicaps and sometimes early death. The
development of guidelines and treatment recommendations for these disorders
have been hampered by a lack of well-designed collection of data and accurate
statistical analysis.
The International Database on RBDs (*RBDD*) has obtained retrospective
information that helped immensely to improve the knowledge on frequency and
distribution of each coagulation defect. However, despite the valuable findings
obtained, there is still a gap on annual incidence of either disorders or the
bleeding episodes as well as on the minimum coagulant activity level that is
able to prevent spontaneous and trauma related bleedings and to provide an
adequate haemostasis.
The new registry *PRO-RBDD* will collect prospective data on prevalence,
bleeding frequency in relation to clotting factor level and genotype, and
management and consumption of treatment products in patients affected with RBD.
These data will be analysed to set up the optimal prophylaxis scheme.

The main objective is to improve treatment with clotting factor concentrate of
patients affected by RBDs by collecting and analysing data on the patients
genotype, laboratory phenotype and clinical severity.
Secondary objectives are to gain information on incidence and prevalence of
RBDs and bleedings, on consumption of treatment products, on the diagnostic
value of several assays, on the relationship between genetic defects and
clinical/laboratory phenotype and to set up facilities to control genetic
defects through prenatal diagnosis.

Prospective registration study.

There are no considerable risks or benefits for the patients. The burden is
minimal: over five years there will be 11 data entry points per patient.
Baseline data collection will be performed at the clinic during a visit
including blood sampling (maximum volume 20 ml). Follow-up consists of initial
screening contact by telephone and personal check-up in case of report of
(suspected) bleeding episodes or other medical events. Also children will be
included in this study, since the population of patients having RBDs is very
small.