Journal of IMAB (Jun 2016)

PATIENT REGISTRIES FOR RARE DISEASES

  • Mariela Deliverska

DOI
https://doi.org/10.5272/jimab.2016222.1166
Journal volume & issue
Vol. 22, no. 2
pp. 1166 – 1168

Abstract

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Rare diseases are diseases with a particularly low prevalence. The specificities of rare diseases - limited number of patients and scarcity of relevant knowledge and expertise - single them out as a distinctive domain of very high added value. The international reference for classification of diseases and conditions is the International Classification of Diseases (ICD), coordinated by the World Health Organization (WHO). Patient registries and databases constitute key instruments for the development of clinical research in the field of rare diseases. Rare disease registries include not only diseases that are inherently rare, but also common diseases that are rare in specific populations, especially those defined by demographics. Disease registries create the possibility of assessing the long-term safety and benefit of different treatments, perhaps leading to treatment algorithms that allow more choices for patients and clinicians.

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