The Rare Disease Market in APAC

By Chad Ji
Rare Disease Expert - South Korea

The rare disease sector can broadly be divided into oncology and ultra-rare disease areas. Today, we will focus on the ultra-rare disease segment (referred to as “rare diseases” hereafter). Most of the insights and content discussed are based on my personal experiences and improvements or my observations of the market; please consider this context.

Over the past two decades, the rare disease sector has evolved significantly. Until the early 2000s, awareness of rare diseases was low, and there was minimal recognition of the need for treatments. However, with the development of new therapies for unmet needs and the emergence of pharmaceutical companies specializing in rare diseases, the industry began to be seen as a lucrative field, by the market. This sector gradually became more systematized through consolidation with big pharma companies.

Significant advancements have been made at each stage of patient care, from the development of new treatments to improving the quality of life for patients. To facilitate understanding, I will introduce changes in the patient journey in the following order:

Market Access

In the early 2000s, Korea’s rare disease market began to see improvements with the establishment of KORD and the emergence of specialized companies. This period was marked by the introduction of flexible and patient-friendly insurance coverage. Additionally, the designation of special exceptions and ODDs (Orphan Drug Designation) allowed for faster market entry.

By the 2010s, multinational pharmaceutical companies began introducing treatments through local partners, creating numerous market opportunities. This period also saw challenges related to cost-effectiveness.

In 2020, the release of high-cost treatments for diseases with relatively low prevalence, such as spinal muscular atrophy and Duchenne muscular dystrophy, led to the implementation of restrictive measures like RSA (Risk Sharing Agreements), limited PE (Pharmacoeconomic Evaluation) Exemption, and difficulties in insurance coverage. Consequently, big pharma companies have primarily used domestic partners to navigate these restrictions. Countries like Australia and Korea are proactively presenting and applying these systems, highlighting the importance of cost-effectiveness. Conversely, Japan and China require more definitive evidence through bridging studies, leading to time and cost burdens but clearer insurance and pricing outcomes.

After 2024, it will be challenging to move beyond economic constraints, requiring access strategies that consider multiple limiting factors. The rise of the Chinese market will also necessitate strategies that prioritize national reference pricing. With the pharmaceutical industry facing contraction due to productivity issues, a more refined P&R (Pricing and Reimbursement) strategy based on cross-functional collaboration will be essential.

Diagnosis

Diagnosis is a unique and indispensable aspect of the rare disease business. Due to the low prevalence of these diseases, individual diagnostic tests are often not covered by insurance, posing practical challenges. Pharmaceutical companies generally provide diagnostic methods philanthropically without clear guidelines, leading to diverse legal interpretations and operational guidelines.

In the early 2000s, diagnostic processes involved providing whole blood tests directly, lacking standardized operating procedures and limited screening capabilities. By the early 2010s, with various players entering the market, awareness among healthcare providers improved, leading to more systematic approaches. Regulations and operational guidelines were developed, enabling the handling of multiple tests.

By the late 2010s, the focus shifted to incorporating more effective and convenient diagnostic techniques to shorten the lead time for diagnosis and treatment, which often took 4-6 months. Techniques like Dry Blood Spot were introduced through collaborations with diagnostic companies like Centogene and Revvity, providing one-stop services for blood tests, genetic testing, and related biomarkers.

In the 2020s, there has been an increased focus on diagnosing variant types and proving correlations between novel mutations and phenotypes. Collaboration with startup’s like 3Billion has led to AI-based buccal tests, potentially changing existing paradigms. However, the high cost of Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) and the broad range of target genes require careful consideration for high-risk screening.

Treatment

Treatment standards and additional funding criteria vary by country. In Korea, patients generally cover 30% of treatment costs, while rare disease patients cover 10%. Additional support is available through MOHW (Ministry of Health and Welfare) funding based on assets and income. However, meeting insurance coverage conditions is critical for starting treatment, with stringent and often ambiguous criteria increasing the difficulty.

For controversial diseases like Fabry disease, specific treatment guidelines have been established, while other conditions like PNH (Paroxysmal Nocturnal Hemoglobinuria) have implemented pre-coverage evaluation systems. Taiwan requires evidence through cardiac biopsies for certain gene types linked to heart conditions, while Japan categorizes specific gene types as polymorphisms. Overall, there is a trend toward narrowing treatment opportunities to more clearly defined patient groups to adhere to cost-effectiveness principles.

Management

Efforts in management have been substantial, focusing on improving awareness and navigating complex processes for insurance and funding. Continuous treatment, often required bi-weekly, is crucial. To address these challenges, rare disease centers have been established in hospitals, pharmaceutical companies support Patient Support Programs through third parties, and patient organizations offer meetings and various forms of support.

Despite these efforts, gaps remain. Improving patient awareness of rare diseases is crucial. Instead of stigmatizing these conditions, it is important to recognize the existence of diagnostic and treatment options and the importance of early diagnosis for families. Adopting the concept of ruling out diseases is also necessary. Enhanced awareness can lead to more proactive family investigations, which is valuable. Furthermore, the role of patient support programs is expected to grow, with an expanded scope.

Outlook and Recommendations

As previously described, the rare disease sector has grown by overcoming challenges, as noted by historian Arnold Toynbee. According to IQVIA’s report on the “Trends and Opportunities in the Rare Disease Market in the Asia-Pacific Region,” over 250 million people with rare diseases are estimated to be in this region, accounting for over half of the global rare disease patient population. The pharmaceutical market demands increasingly specialized and personalized treatments, indicating that the role and significance of rare diseases will continue to grow.

Rare diseases, despite having few patients, are promising due to high treatment costs and innovative, productive contributions to the pharmaceutical industry. However, this market involves complex challenges related to market access, patient journeys, and comprehensive formation of all aspects.

Given the extended lead times in this business, setting up initial operations effectively and reducing the time to diagnosis and treatment for patients is crucial. Collaboration across departments to develop and execute P&R strategies will be essential. Developing business models tailored to country-specific conditions, systems, and technologies is a priority. Additionally, utilizing hybrid models that incorporate digital tools, key account management and further CSO(Contract Sales Organization) model.

To minimize trial and error, considering various approaches through external experts or strengthening partnerships can be advantageous. The rare disease market in the Asia-Pacific region will require tailored strategies that account for market maturity, economic levels, healthcare system development, and government policies for successful entry.

Active Markets

Duchenne Muscular Dystrophy (DMD):

Japan and South Korea have advanced healthcare infrastructures, achieving 60% market penetration for DMD therapies.

Spinal Muscular Atrophy (SMA):

Established therapies in Japan, Australia, and China, with supportive reimbursement frameworks, reach over 50,000 patients in China.

Lysosomal Storage Disorders (LSDs):

Japan and Taiwan have seen a 30% increase in treatment accessibility for Fabry disease due to high unmet needs and effective policies. Gaucher disease treatments are widely utilized in Japan and South Korea.

Future Market Opportunities

Huntington’s Disease: Antisense oligonucleotide (ASO) therapies show a 20% improvement in patient outcomes, with Japan and South Korea leading research.

ATTR (Transthyretin Amyloidosis): Emerging therapies, including gene silencers and stabilizers, present significant market opportunities in Japan and South Korea due to increased diagnostics and supportive regulatory environments.

Gene Therapy for Hemophilia: Expected to grow by 25% annually, particularly in China and Japan, due to strong regulatory support and investment.

CRISPR and Gene Editing: Anticipated investments of over $1 billion in gene editing by 2025, with China emerging as a leader in CRISPR-based treatments for sickle cell and beta-thalassemia.

Rare Cancers: Projected to reach $2.5 billion by 2026, driven by immuno-oncology drugs, with Japan and Australia leading adoption.

Partnering for Success in the APAC Rare Disease Market

As the rare disease landscape in the Asia-Pacific region continues to evolve, navigating its complexities requires a deep understanding of its unique challenges and opportunities. At Partner Rare, we offer strategic guidance and comprehensive support to biotech and pharmaceutical companies seeking to bring their life-saving therapies to patients in this dynamic market.

Our team of seasoned experts, including Chad Ji, possesses extensive experience in navigating the regulatory, market access, and commercialization challenges specific to the APAC region. We are committed to partnering with you to develop and execute tailored strategies that maximize your therapy’s impact and ensure patients receive the treatments they need.

Contact us today to explore how we can help you navigate the APAC rare disease market and achieve your goals.

About the Author

Chad Ji

A seasoned biopharmaceutical executive with over 20 years of experience in the rare disease domain. Chad has held leadership positions at several prominent companies, including Takeda, Shire, and Sanofi Genzyme.

His accomplishments include establishing a new rare disease organization, spearheading market development strategies that drove significant growth, and refining expertise in scaling operations and optimizing product lifecycles.

Currently, Chad leverages his deep industry knowledge through strategic advisory roles, with a particular focus on the APAC region. He tackles regulatory and market access challenges, helping companies navigate the unique complexities of this dynamic market. His visionary leadership continues to shape the future of rare disease therapeutics and patient care in the Asia- Pacific region.

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