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International Health Joanna Zdziarska,1


The HemoRec Database as an Example of a Rare Diseases Registry Krzysztof Chojnowski,2


Anna Klukowska,3 Maria Podolak-Dawidziak,7 Jerzy Windyga,4 Petra Ovesna,8


Magdalena Łętowska,4 Petr Brabec8


Andrzej Mital,5 and Krystyna Zawilska9


1. Department of Haematology, Jagiellonian University Medical College; 2. Department of Haematology, Medical University of Lodz; 3. Department of Paediatrics, Haematology and Oncology, Warsaw Medical University; 4. Institute of Haematology and Transfusion Medicine, Warsaw; 5. Department of Haematology and Transplantology, Medical University of Gdansk; 6. Department of Medicine, Jagiellonian University Medical College; 7. Department of Haematology, Blood Neoplasms and Bone Marrow Transplantation, Wroclaw Medical University; 8. Institute of Biostatistics and Analyses, Masaryk University; 9. Department of Internal Diseases and Haematology, J Strus Hospital, Karol Marcinkowski University of Medical Sciences


Jacek Musiał,6


Abstract


Rare diseases constitute a major burden on public health, mainly due to the high cost of therapy and logistical difficulties (for example, the need to organise a network of designated treatment centres). National and international registries of rare diseases facilitate data collection and analysis for demographic, economic and research purposes. They are also useful for treatment centres and other healthcare providers and pharmaceutical companies developing orphan drugs. We present the HemoRec database, implemented in 2006 in six European countries, as an example of an international registry of inherited bleeding disorders. HemoRec is used in 15 Polish treatment centres and stores data on 1,100 patients with inherited bleeding disorders (amounting to 24.9% of all patients registered in the Polish central registry held at the Institute of Haematology and Blood Transfusion in Warsaw). It can be developed in the future into a national platform of data collection and exchange in the network of Polish, and hopefully also European, haemophilia treatment centres.


Keywords HemoRec, haemophilia, registry, rare diseases, orphan diseases, bleeding disorders, rare bleeding disorders, von Willebrand disease


Disclosure: The authors have no conflicts of interest to declare. Acknowledgements: The HemoRec database was created and maintained within an unrestricted educational grant from the pharmaceutical company NovoNordisk A/S. We would like to acknowledge all those who participated in the development of this database in Poland through entering the data of patients in haemophilia treatment centres: Mariola Bober, Halina Bobrowska, Radoslaw Bogucki, Grzegorz Dobaczewski, Arkadiusz Drobiecki, Magdalena Gorska-Kosicka, Anna Janik-Moszant, Pawel Laguna, Jaroslaw Peregud-Pogorzelski, Dorota Siminska, Ewa Stefanska-Windyga, Jacek Trelinski and Ewa Zuk. Received: 9 November 2010 Accepted: 15 March 2011 Citation: European Oncology & Haematology, 2011;7(2):147–50 Correspondence: Joanna Zdziarska, Department of Haematology, Jagiellonian University Medical College. ul. Kopernika 15, 31-501 Krakow, Poland. E: joannaz@patio.strefa.pl


Adequate and thorough patient data collection and management is an integral part of every modern healthcare system. Well-designed, easily accessible and secure databases are needed, particularly in the field of rare, inherited, chronic diseases that generate high economic burdens on healthcare systems. Depending on the structure and functionality of the registry, it can provide valuable data on the prevalence, clinical picture and treatment of the disease, enable constant verification of the demand on therapeutic options (usually orphan drugs) and the monitoring of adverse events.


Rare diseases are usually defined as conditions affecting fewer than five per 10,000 persons.1


According to the US Office of Rare Diseases


Research, a rare disease (or an orphan disease) is a condition affecting fewer than 200,000 persons (www.rarediseases.info.nih.gov). Several thousand rare diseases fulfilling these criteria can be identified, and they affect approximately 3% of the whole population.1


Congenital


bleeding disorders are also included in this list, as their prevalence does not exceed 1:10,000 for haemophilia,2 type 3 von Willebrand disease3 clotting factor deficiencies.4


1:250,000–1:1,000,000 for and 1:500,000–1:2,000,000 for other © TOUCH BRIEFINGS 2011


Most rare diseases are genetically determined, severe, debilitating conditions. Efforts to collect data and create registries of these disorders are being constantly made in order to facilitate treatment, research, demographic analyses and drug development.1,5,6 Moreover, increasing the number of patients can significantly improve the quality of research in the field of rare diseases. A recent initiative of the Office of Rare Diseases Research, launched at the workshop held in Bethesda, Maryland, US on 11–12 January 2010, underlined the need for a central registry collecting core data from different databases across the world and addressed the matter of data control and access.5


European projects concerning rare


diseases include the Orphanet database, designed in France in 1997 and which spread to the whole of Europe in 2000 (www.orpha.net), the Rare Diseases Task Force, funded by the European Commission Public Health Directorate in 2004 (www.rdtf.org) and the European Organisation for Rare Diseases (EURORDIS) – the patient- driven organisation founded in France in 1997, which brings together 434 member organisations from 43 countries (www.eurordis.org). Prevention, diagnosis and optimal therapy of rare diseases are the main challenges highlighted by these projects. They are based on


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