Paradox of possibilities: the rare landscape in the Asia Pacific Region

APAC regional RD policy context

Despite the consolidated acronym APAC, which may imply a unified approach, the reality presents a diverse landscape with varying strategies and levels of recognition of the pressing challenges faced by PLWRD and their families. Make towards this aim, over the past thirty years, many countries have set up dedicated policies or legislation to provide provisions to address the needs of PLWRDs. Japan remains one of the first countries to implement a dedicated policy in 1993^[5-7]. The 1993 Japanese Pharmaceutical Affairs Law (now the Pharmaceuticals and Medical Devices Act) was revised to define rare and intractable diseases, collectively referred to as NANBYO. Furthermore, under the same law, measures were taken to promote research and development of orphan drugs, and review procedures were improved. Similarly, Australia has demonstrated leadership in forward-thinking RD policies. The Australia Therapeutic Goods Regulations 1997 provided guidance for orphan drug programs and incentives to market these medicines. In 2020, the "National Strategic Action Plan for RDs" was launched in Australia, focusing on collaboration between healthcare providers, researchers, patient organizations, and the government to improve coordination, research, and treatment access for RDs. Between 2000 and 2010, dedicated legislations on RD or orphan medicines were set up in Singapore, South Korea, Taiwan, and subsequently, between 2010-2021, in Hong Kong and the mainland of China, India, Indonesia, Malaysia, Philippines, and Thailand^[9-12]. Further, while New Zealand has made a commitment to a strategy for RDs, no policy has been established yet^[13]. Despite the existence of RD policy, many countries do not have a specific policy context for RDs. The extent and focus of the policies differ across countries, ranging from public awareness, patient support, research, diagnosis, and treatment access. Hence, the level of implementation varies vastly within the APAC region.

Unique characteristics of APARDO

APARDO, established in 2015 and as stipulated in the strategic plan, seeks to provide a patient advocacy-led alliance of RD stakeholders from the APAC region representing rare-disease organizations and operates under a constitution^[8]. The Alliance’s mission is to work effectively with national and regional policy makers, industry, and healthcare professionals to increase awareness, facilitate collaborations to explore equitable and affordable diagnosis and treatment, and improve health outcomes and quality of life for all patients and their caregivers. By 2023, APARDO has grown to an alliance of 29 member organizations from 15 countries.

APARDO operates across a vast geographical area comprising 62 nations in Asia-Pacific [UNFPA]^[14] with an estimated 60% of the world population, including India and China, the two most populous countries globally. Notwithstanding the tremendous geographic and population spread, the alliance of Asian patient organizations is similar in its representation to other RD alliances operating at a regional level, such as the Rare Disease Europe (EURORDIS) and Ibero-American Alliance for Rare, Orphan or Infrequent Diseases (ALIBER). Such regional alliances typically leverage unifying aspects (e.g., common gaps, objectives) to facilitate operations and shared causes. In Europe, the European Union and the common market framework provided the first opportunity for EURORDIS to unify patient groups from European countries on a common objective. Similarly, ALIBER (a partnership between Ibero-American countries represented by the Portuguese National Alliance for Rare Diseases and the Spanish National Alliance for Rare Diseases) seeks to address the common challenges encountered in Spanish- and Portuguese-speaking regions. In contrast to the two alliances, APARDO operates in a broad geographical region with heterogeneous cultures, languages, and varying levels of development and readiness within health systems. While the organization draws on shared experiences with RDs and a commitment to tackle related issues and gaps, the lack of a unified economic or political framework (currently and in the near future) complicates the possibilities of working towards common goals. Nonetheless, such diversity has also yielded success stories through concerted and committed advocacy in the APAC nations (see Table 1 for a snapshot of the RD landscape in the countries represented in the APARDO membership). As Table 1 indicates, significant advances and developments are taking place across the region, among the higher-income and more technologically advanced countries/regions such as Japan, Korea, Taiwan, Hong Kong, China, and Australia, as well as those with developing or emerging RD research and health, social, and community services, notably India, Malaysia, Philippines, Indonesia, and Vietnam.

Looking ahead, the alliance has the potential to play a critical role in achieving health equity, improved diagnosis, and access to treatment and supportive care through strengthening its patient network, deepening engagement with stakeholders, and maintaining ongoing programs of education and capacity building. These objectives necessitate advocacy for contributing to specific policies to provide both visibility and improvement in the lives of those with RDs and their families.

Compared to EURORDIS and ALIBER, APARDO is the youngest regional alliance. The pioneer EURORDIS was established in 1997, ALIBER in 2013, and APARDO registered as recently as 2015. As a younger alliance, APARDO is on the path of strengthening as an organization and developing its membership. As of 2023, APARDO has no dedicated office space, has one part-time staff as an administrator, and relies heavily on the in-kind time contribution of its board of directors and members. Further investment is necessary to consolidate the organization and hire dedicated staff capable of handling secretarial duties, fundraising, and implementing strategic plans.

A review of APARDO activities and contributions

APARDO was set up as a patient alliance of RD stakeholders from the APAC region. Its objectives were to empower national RD organizations to advocate for better outcomes and quality of life for PLWRD and caregivers. It serves as a platform for promoting best practices and the exchange of information across the region. The focus of its initial activities has been to identify and assess solutions for gaps between patients and policies, as well as to amplify the voice of stakeholders, influence policies, and strengthen regional initiatives.

Along these lines, the organization has raised capital to enable the delivery of educational programs and organize annual conferences in Taiwan (2019), virtually in 2020 and 2021, and in Thailand in 2022 and in Malaysia in 2023. APARDO has also organized a series of webinars on diverse topics, such as Essential Medicines and Cell and Gene Therapy. It has also partnered with organizations such as rare diseases international (RDI) for their initiative, the Global Network for RDs, and regionally, through support towards the RD Network, previously associated with the Asian Pacific Economic Cooperation (APEC) program. Over the years, the organization has collected data on patient needs and gaps and contributed to publications^[8,48,62]. As a member of various global organizations such as RDI and the International Rare Diseases Research Consortium (IRDiRC), APARDO continues to contribute perspectives from the APAC region with the goal of improving the lives of PLWRD and their families.

Opportunities for strengthened collaborations

The hyper diversity of languages, cultures, paternalistic healthcare systems, and sparsity of developed patient organizations pose an enormous challenge for effective and efficient exchanges across APAC. Territorial differences ranging from vast areas (China, India, Australia) to thousands of islands (Indonesia, Philippines) lead to barriers in outreach to RD patients, particularly in remote areas, making an assessment of needs, care integration and delivery, and dissemination of information and training a challenging undertaking. This is exacerbated by a lack of reliable epidemiological data on prevalence and socioeconomic burden, sparse diagnostic resources and patient registries, approved and/or funded medical treatment, and more. The lack of such understanding of the needs of the target population further impedes investment in RD research.

Nevertheless, there are great efforts across APAC to address challenges in different contexts. LMICs have useful skills and best practices to share, as demonstrated by responses to the COVID-19 pandemic. The experience of the SARS outbreak in 2003, as well as the ability to efficiently and creatively use limited resources for maximum impact, has come to the fore more than once. Examples include the ease of adapting telemedicine and digitalization of organizational operations for continuity and broadened impact^[62,63]. Furthermore, despite its challenges, many countries have persevered to expand the protection of RD patients. For instance, expanded newborn screening programs are implemented in the Philippines, which is serving as a model for access across remote islands and limited resources^[64].

Active patient engagement and advocacy, such as in Europe, has been successful in pushing changes in policies and supporting better diagnosis, treatment, and quality of life for PLWRD. However, most APAC countries lack the necessary support and motivation for patients and patient organizations to participate in various levels and topics related to their disease, and to speak out about gaps between their unmet needs and existing healthcare services. Global policy advancements, such as the UN Resolution “Addressing the challenges of persons living with a RD and their families” and Political Declaration on Universal Health Coverage including RDs, lend tools for national engagement and advocacy^[65,66].