RBDD
database
Since 1996 the Angelo
Bianchi Bonomi Haemophilia and Thrombosis Centre (http://www.bianchibonomi-htcenter.it),
IRCCS Foundation Maggiore Hospital, Mangiagalli, Regina Elena
(http://www.policlinico.mi.it),
Luigi Villa Foundation (http://www.fondazioneluigivilla.org)and
University of Milan (http://www.unimi.it)
have been collecting information and developing international
collaborations across the RBDs network, becoming an International
reference point. In the last ten years we have investigated more
than 200 patients with RBDs from a variety of countries (Figure
4 ). The continuing collaboration with different international
centres will allow to further extend the knowledge of RBDs and
give a platform to focus and develop further diagnostic and therapeutic
research activity.
In 2004, during the 50th Scientific and Standardisation Committee
(SSC) meeting organized by the International Society of Thrombosis
and Haemostasis and held in Venice, a SSC working group on "Rare
Bleeding Disorders" (RBDs) was established within the framework
of the FVIII/IX subcommittee. The aim of this group is to initially
collect data on RBDs from various clinicians and researchers engaged
in this field.
The main goals of the RBD working group are:
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To
establish and implement an International Database of RBDs.
Contributions to this database will allow a comprehensive
analysis of the distribution of patients affected by RBDs
in each region of the world. This data collection will increase
our knowledge on the clinical and therapeutic aspects of
RBDs
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Identification
of available drugs for replacement therapy of each very rare
bleeding disorder in different regions of the world. The work
of this group will help to constantly follow (overhaul) drug
production, cost and distribution in the world and mainly
to encourage the development of drugs particularly for those
deficiencies with no available therapeutic concentrate. |
With these goals, an on-line International Database
on RBDs (RBDD, www.rbdd.org) was developed with the aim of efficiently
collecting and extracting already available data on RBDs. The
conceptual schema of RBDD (Figure 5)
was designed thanks to the collaboration of molecular, clinical
and informatic expertises. Currently the database contains clinical,
genetic and therapeutic information on a large group of severely
affected patients scattered in various parts of the world. By
creating a network of the Haemophilia Centres around the World,
we believe that RBDD should represent a reference informative
tool where knowledge and expertise on RBDs could be collected
and shared.
The knowledge extracted from RBDD will allow optimisation of retrospective
studies; whereas further studies are needed to ameliorate current
treatments and diagnosis.
Thus the final goal is to provide evidence-based guidelines
for diagnosis and management of patients affected by RBDs, coming
from an unique International database formed by the implementation
of all the pre-existing databases and managed by a scientific
International organization, such as ISTH or WFH.
