RARE DISEASE REGISTRIES- PURPOSE, CHALLENGES & SOLUTIONS

Abstract

Rare diseases are defined, as any condition or disease having a low prevalence in the United States and the European Union. There is a scarcity of relevant knowledge and experience with rare diseases due to an incomplete understanding of the underlying disease mechanisms, relevant clinical endpoints, lack of correct diagnosis in the population. These challenges create a unique need for cooperation and infrastructure. Data registry is a critical tool in building a comprehensive knowledge base for these rare diseases. Our paper will provide the overview of patient registries for rare diseases, current use, limitations, challenges and proposed plan for improvement.