Bioscience Evidence 2024, Vol.14, No.1, 16-23 http://bioscipublisher.com/index.php/be 17 clinical trial cost of rare disease drugs is 50% of non rare disease drugs before deducting tax deductions; The median cost of conducting global clinical trials for non rare disease drugs is approximately 33.4 million US dollars. Therefore, if considering clinical trial costs and tax deductions, the median clinical trial cost of rare disease drugs is approximately 8.35 million US dollars (Koreiweian, 2018, http://www.yyjjb.com.cn/). For many pharmaceutical companies, the imbalance between investment and return on investment in rare disease drug development makes it difficult for them to bear this economic pressure. In the field of drug discovery and development for rare genetic diseases, Sun et al. (2017) conducted groundbreaking work aimed at overcoming significant challenges in this field. The research team pointed out that although rare diseases have a significant impact on patients, there is a significant gap between basic research and clinical intervention for these diseases. They emphasize that there are already opportunities to accelerate the development of rare disease drugs, and disease foundations and research centers worldwide are focusing on better understanding these rare diseases (Polizzi et al., 2014). According to Tang et al. (2022), the distribution of anti-tumor drug development is not balanced among different types of tumors. For rare tumors with low incidence rate, the number of patients is small and it is difficult to carry out clinical trials, leading to relatively low research and development enthusiasm in this field. But the treatment needs of patients also bring potential opportunities for pharmaceutical companies. The development of basic research and the discovery of new tumor molecular subtypes have made "Rare tumors" a dynamic concept, and its scope may gradually expand with the precision of treatment. Yang et al. (2023) summarized the incentive policies for the development of rare disease treatment drugs from 2015 to present. Through literature review and public information, they sorted out the information of drugs approved for the treatment of rare diseases in the first batch of rare disease catalogs from 2018 to 2023, and analyzed the current status of rare disease drug development in China. It is recommended to regularly update the list of rare diseases, strengthen the protection of the rights and interests of rare disease drug developers, encourage the replication of high-quality rare disease drugs, and promote the innovative development of the rare disease drug research and development industry to meet the medication needs of rare disease patients. 1.2 The complexity of scientific research The scientific complexity of drug development for rare diseases mainly stems from the complexity and heterogeneity of the disease itself (Liu et al., 2022). Many rare diseases are caused by genetic mutations, environmental factors, or the interaction of multiple factors, which requires researchers to deeply explore the molecular mechanisms, pathophysiological processes, and progression pathways of diseases. These diseases often have unique pathogenesis and pathological processes, which make traditional drug development methods difficult to be effective. Boycott and Ardigò (2017) provided an in-depth analysis of current challenges and explored ways to overcome them. They pointed out that although significant progress has been made in gene discovery in recent years, translating these findings into treatment plans still poses challenges. This is mainly due to the difficulty in diagnosing rare diseases and the lack of specific treatment methods for these diseases. In June 2021, Risdiplam powder for oral solution was approved for marketing in China as a Class 1 chemical drug for the treatment of spinal muscular atrophy patients aged 2 months and above. In the early stage of clinical research and development, the applicant actively communicates with regulatory authorities, adopts an international multicenter trial design, and tries to include Chinese patients in the study as much as possible. Under the same experimental design and implementation system, the applicant obtains full chain trial data of Chinese patients, including pharmacokinetics (PK), pharmacodynamics (PD), efficacy, and safety (Chen et al., 2022). 1.3 Research and market factors The development of rare disease drugs still needs to face strict regulatory approvals and complex market environments. Due to the particularity and complexity of rare disease drugs, their development process requires
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