By:DengYue International Business Division

Although individual rare diseases affect relatively small patient populations, their overall impact is far greater than many people realize. More than 7,000 rare diseases have been identified worldwide, collectively affecting an estimated 300–400 million people. In China alone, over 20 million people are living with rare diseases, with approximately 200,000 new cases diagnosed each year.

To strengthen the rare disease diagnosis and treatment system, China's National Health Commission and four other government agencies jointly released the First National Rare Disease Catalog in 2018, covering 121 diseases. Following the publication of the Second National Rare Disease Catalog in 2023, the total number of listed diseases expanded to 207, providing an important foundation for drug development, regulatory approval, reimbursement inclusion, and clinical application.

In recent years, China has continued to improve its rare disease policy framework. Mechanisms such as dynamic National Reimbursement Drug List (NRDL) updates, expedited review pathways, conditional approvals, temporary importation programs, and the Hainan Boao Lecheng International Medical Tourism Pilot Zone have significantly enhanced patient access to innovative therapies.

By the end of 2024, approximately 126 rare disease treatment drugs had been included in China's NRDL, covering 68 rare diseases. In 2024 alone, 13 new rare disease indications were added, including therapies for Homozygous Familial Hypercholesterolemia (HoFH), Idiopathic Pulmonary Arterial Hypertension (IPAH), and other conditions.

Meanwhile, China's National Medical Products Administration (NMPA) has continued to accelerate approvals of rare disease therapies. In 2025, a total of 48 rare disease-related products received approval. Between 2020 and 2025, nearly 190 rare disease therapies were approved for marketing, indicating that China's rare disease drug supply system has entered a period of rapid expansion.

Market Data and Industry Trends

Procurement Demand Continues to Grow

Procurement data from healthcare institutions indicate a significant increase in demand for rare disease medications.

Publicly available data show that between 2017 and 2019, the procurement volume of rare disease drugs in Chinese healthcare institutions, measured in Defined Daily Doses (DDDs), increased continuously. In 2018, procurement volume grew by 571.56% year-over-year, while procurement expenditure increased by 45.22%.

Notably, although some high-cost orphan drugs account for a substantial share of procurement spending, patient coverage rates remain below 5%, and in some cases even below 1%, highlighting considerable unmet medical needs within the market.

Rapid Market Expansion

The global orphan drug market has become one of the fastest-growing segments within the pharmaceutical industry.

Industry forecasts estimate that:

● The global orphan drug market exceeded USD 220 billion in 2024;

● The market is expected to surpass USD 400 billion by 2030;

● The compound annual growth rate (CAGR) is projected to remain above 10%.

China's orphan drug market is also experiencing rapid growth.

Supported by favorable policies, breakthroughs in domestic innovation, and improved reimbursement capabilities, China's rare disease drug market is expected to exceed RMB 100 billion before 2030, making it one of the most promising growth markets globally.

Accessibility Remains the Core Challenge

Despite continuous expansion of reimbursement coverage, most rare disease therapies remain high-cost treatments, with annual patient expenses ranging from tens of thousands to several million yuan.

China's reimbursement ecosystem is gradually evolving into a multi-layered payment structure comprising:

● National Health Insurance

● Catastrophic Medical Insurance

● Medical Assistance Programs

● Inclusive Supplemental Insurance Programs

● Patient Assistance Programs (PAPs)

● Commercial Health Insurance

However, challenges such as insufficient hospital stocking, inconsistent implementation of dual-channel reimbursement mechanisms, and regional disparities in reimbursement policies persist, creating significant opportunities for specialized pharmaceutical supply chain services.

Priority Categories for Rare Disease Drug Procurement

From a procurement perspective, priority should be given to products that:

● Have been included in the National Reimbursement Drug List (NRDL);

● Demonstrate clear and growing clinical demand;

● Have relatively stable reimbursement and payment support;

● Benefit from mature supply chains and strong policy backing.

1. Neuromuscular and Neurodegenerative Disorders

Spinal Muscular Atrophy (SMA)

SMA has become one of the most closely watched rare diseases in recent years.

Key products include:

● Nusinersen (Spinraza)

● Risdiplam (Evrysdi)

Following reimbursement negotiations, treatment costs have decreased significantly, resulting in rapid growth in patient access and making SMA one of the most important pediatric rare disease markets.

Amyotrophic Lateral Sclerosis (ALS)

Growing public awareness and continued drug development efforts are driving increasing demand for ALS therapies.

Key products include:

● Riluzole

● Edaravone

● Emerging gene and RNA-based therapies

Multiple Sclerosis (MS)

Although the patient population remains relatively limited, long-term treatment requirements create sustained demand.

Representative therapies include:

● Fingolimod

● Ocrelizumab

● Siponimod

These products offer strong long-term procurement value.

2. Lysosomal Storage Disorders and Inherited Metabolic Diseases

This segment represents one of the most mature areas within the global orphan drug market.

Gaucher Disease

Representative therapies include:

● Imiglucerase

● Velaglucerase Alfa

● Taliglucerase Alfa

As domestic manufacturers continue to enter the market, supply stability is improving.

Pompe Disease

Key therapies include:

● Alglucosidase Alfa

● Next-generation enzyme replacement therapies

Patients typically require lifelong treatment, creating stable procurement demand.

Mucopolysaccharidoses (MPS)

Including:

● MPS I

● MPS II

● MPS IVA

Demand for enzyme replacement therapies continues to grow steadily.

Additional areas worth monitoring include Fabry Disease and Niemann-Pick Disease.

3. Hematologic and Immune-Related Rare Diseases

Paroxysmal Nocturnal Hemoglobinuria (PNH)

Complement inhibitors have become the standard of care.

Key products include:

● Eculizumab

● Ravulizumab

These therapies represent a typical high-value orphan drug market.

Hemophilia

As preventive treatment strategies gain wider adoption, demand for long-acting coagulation factor products continues to increase.

Key therapeutic categories include:

● Recombinant Factor VIII

● Recombinant Factor IX

● Non-factor Replacement Therapies

Light Chain (AL) Amyloidosis

Market interest has increased significantly following the inclusion of related therapies in reimbursement programs in 2024.

4. Oncology and Other High-Potential Areas

Pulmonary Arterial Hypertension (PAH)

Representative therapies include:

● Macitentan

● Bosentan

● Ambrisentan

● Riociguat

PAH represents one of the more established rare disease treatment markets.

Neurofibromatosis

Significant progress has been achieved in targeted therapies in recent years.

Several innovative products have received regulatory approval, making this a promising future growth area.

Hereditary Angioedema (HAE)

As diagnostic rates improve and reimbursement coverage expands, market demand continues to grow steadily.

Pediatric Rare Diseases

Approximately 50% of rare diseases manifest during childhood.

Given the strong policy emphasis on pediatric drug development, innovative therapies with pediatric indications should be prioritized in procurement planning.

Procurement Decision Framework: How to Build a Scientific Stocking Strategy

For healthcare institutions, pharmaceutical distributors, and specialized supply chain providers, rare disease drug procurement should focus on the following dimensions:

Clinical Demand Assessment

Leverage:

● National Rare Disease Diagnosis and Treatment Collaboration Network

● Patient Registries

● Real-World Data (RWD)

● Rare Disease Reporting Systems

to establish dynamic demand forecasting models.

Reimbursement and Affordability Assessment

Key factors include:

● Insurance Coverage Status

● Commercial Insurance Participation

● Patient Assistance Programs

● Out-of-Pocket Payment Ratios

This helps minimize inventory risks associated with high-cost therapies.

Inventory Management Strategy

Recommended approaches include:

● Dual-Channel Distribution Models

● Demand-Based Procurement

● Bonded Inventory Programs

● Regional Distribution Center Models

These strategies can significantly improve inventory turnover efficiency.

Supply Chain Risk Management

Particular attention should be paid to:

● Sole-Supplier Risks for Originator Products

● Patent Expiration Timelines

● Launch Progress of Domestic Alternatives

● Cold Chain Logistics and Traceability Systems

to ensure supply continuity and regulatory compliance.

DengYue: A Professional Partner for Rare Disease Drug Procurement and Supply Chain Solutions

In the field of international procurement and pharmaceutical supply chain services for rare disease therapies, DengYue has long specialized in cross-border access to innovative medicines, specialty pharmaceuticals, orphan drugs, and treatments for serious diseases.

Leveraging a global pharmaceutical sourcing network and an experienced compliance team, DengYue provides healthcare institutions, pharmaceutical companies, and distribution partners with:

● Commercial Drug Importation and Distribution Services

● Temporary Importation and Named-Patient Access Solutions

● Hainan Boao Lecheng Pilot Zone Drug Introduction Support

● Comparator Drug Sourcing for Clinical Research

● Drug Registration and Marketing Authorization Assistance

● International Pharmaceutical Supply Chain Management and Procurement Consulting

For urgently needed therapies that have received overseas regulatory approval but have not yet been officially launched in China, professional supply chain platforms can help shorten patient waiting times and improve treatment accessibility.

As China's rare disease diagnosis and treatment ecosystem continues to evolve, specialized pharmaceutical service providers will play an increasingly important role in accelerating market access, improving supply efficiency, and optimizing patient treatment experiences.

Future Outlook

China's rare disease sector is transitioning from "having medicines available" to ensuring medicines are accessible, affordable, and sustainable.

Over the coming years, continued NRDL updates, exploration of supplementary reimbursement mechanisms, expansion of multi-tiered payment systems, and advances in gene therapy and cell therapy are expected to drive a new phase of market growth.

For healthcare providers, distributors, and supply chain companies, establishing dynamic monitoring systems, strengthening demand forecasting capabilities, optimizing inventory management strategies, and collaborating with professional partners will be essential for capturing opportunities within this evolving market.

Rare diseases are not a niche market. They serve as an important benchmark for both healthcare innovation and healthcare equity. Scientific procurement, precise supply management, and effective collaboration will help ensure that more patients gain timely and sustainable access to life-changing therapies.