Rare disease research and orphan drug discovery / 国际药学研究杂志

ABSTRACT

Rare diseases are the major challenges we face today and the difficulties in the treatments mainly lie in the shortage of orphan drugs. The growing awareness of the need for pharmaceutical products means the orphan drug market has great commercial potential. Currently, multiple international organizations cooperate to reduce the redundancies and the administrative load in submitting applications for orphan drug designation, aiming to accelerate the global legislation of the orphan drugs. In China, a nation-wide registry system, the National Rare Diseases Registry System of China(NRDRS), and the cohort study based on the registry system will greatly facilitate both the rare disease research and the following clinical trials of orphan drugs. The study of the rare disease pathogenic mechanisms will benefit the development of orphan drugs, especially in gene therapy and enzyme replacement treatment, the targets of which largely depend on the understanding of the disease pathogenesis. It will not only advocate the repurposing of the common drugs, so as to be approved as orphan drugs, but also expand the scope of the common drug targets, solving the inherent problems. Furthermore, though the efficacy and safety of orphan drugs may be verified by clinical trials, the underlying mechanism can only be explained with the help of the study of the rare diseases. Besides, thanks to the superiority of the marketing and legislation of the orphan drugs, many medicines may be approved as orphan drugs at the very beginning, but with the expansion of the indications, they may turn out to be effective in various common diseases. Therefore, orphan drugs are also beneficial to the development of the overall pharmaceutical industry. In the era of the precision medicine, the set up of the NRDRS of China will help clarify the correlation between the phenotype and the genotype, strongly assist the industrial delivery of orphan drugs, and may eventually lead to the enhancement of the pharmaceutical industry in China.