臺灣的罕藥法規環境：獨特性、現況及未滿足的需求

Abstract

罕藥是指適應症用於預防、診斷、治療罕見疾病的藥物。目前，已有許多國家制定罕藥相關的法規或政策，以鼓勵此類藥物的研發、製造和供應，而臺灣也不例外。本研究的首要目的為綜整和比較美國、歐盟、日本、澳洲和臺灣等五個國家/地區的罕藥法規環境，描述了罕藥認定的標準、上市許可、市場專屬期及其他的獎勵措施、健保給付與核價方法。另外，我們也對五個研究國家/地區近年來核准罕藥情形進行了分析與比較，以評估罕藥法規的有效性並呈現罕藥的研發趨勢。此外，為了反映臺灣罕藥的使用現況並探討未滿足的醫療需求，我們檢索並分析了官方網站的罕見疾病患者人數、罕藥使用量、罕藥使用人數等資訊和數據。根據我們的研究，目前仍有許多罕見疾病沒有合適的治療方法。儘管已向罕藥研發廠商提供了許多獎勵措施，但未滿足的醫療需求仍然存在。可能還需要其他獎勵措施來更進一步支持罕藥的研發，也需要法規單位、藥業和學術界等利益關係人之間的合作，以提升罕藥的可用性和可近性。我們的研究可以協助提供未來政策制定之見解。

Orphan drugs are drugs indicated for the prevention, diagnosis, and treatment of rare diseases. To date, orphan drug-related regulations or policies have been established in several countries to encourage research and development, manufacturing, and supply of such drugs, and Taiwan is no exception. The main objective of the present study was to summarize and compare the regulatory environments for orphan drugs in five countries/regions, including the United Sates, European Union, Japan, Australia, and Taiwan. The criteria for orphan drug designation, marketing authorization, market exclusivity and other incentives, reimbursement and pricing methods were described. Besides, we analyzed and compared the orphan drug approval in the five investigated countries/regions in recent years to evaluate the effectiveness of orphan drug regulations and reveal the development trend for orphan drugs. Furthermore, in order to reflect the current status of orphan drug usage and explore the unmet medical needs in Taiwan, we retrieved and analyzed the information and statistics from official websites regarding the number of patients with rare diseases, amount of orphan drug usage and number of users. According to our study, there are still many rare diseases without available treatments at present. Although several incentives have been offered to orphan drug sponsors, unmet medical needs remain. Other incentives or measures may be required to support further development of orphan drugs. Collaboration among relevant stakeholders including regulatory authorities, pharmaceutical industry, and academia is also needed to enhance orphan drug availability and accessibility. Our study could provide insights in assisting future policy making.