Challenges and opportunities of drug research and development in rare diseases / 国际药学研究杂志

ABSTRACT

Rare diseases, although individually rare, affect approximately 6%-8% of the total population with more than 6000 diseases identified. The significance of and unmet need in rare diseases for both patients and society are high. Development of new treatments for rare diseases is associated with significant challenges such as low market potential for innovative pharmaceutical companies, often unclear regulatory path, lack of validated clinical endpoints and patient reported outcomes and insufficient data regarding the disease. Special incentivizing strategies such as market exclusivity, waiver or reduction of regulatory submission fees and assistance in clinical trial protocol development and tax incentives have been implemented to enhance drug development in rare and neglected diseases. The ultimate goal of these strategies is to help patients receive adequate treatments irrespective of the epidemiology of their disease. Furthermore, rare diseases, often with a well-defined pathogenesis, represent a unique opportunity for drug discovery in a given homogeneous disease with subsequent indication expansions. Although the number of rare disease treatments that became available for patients has increased, the unmet medical need is still high in this special population.