'Health orphans' don't have time on their side as life-saving drugs to treat rare diseases often face slow access

While global progress in treating rare diseases continues to accelerate, so-called "health orphan" patients in China still face barriers to accessing life-saving medications. The gap between available treatments abroad and those approved domestically remains a challenge.

Between 2019 and mid-2024, China approved 80 foreign-developed rare disease drugs – also called "orphan drugs" because they treat diseases suffered by a relatively small number of individuals. It was a step forward, but still far behind global counterparts.

By the end of 2022, the US Federal Drug Administration had approved 882 orphan drugs for 392 diseases, whereas China had only 165 for 92 diseases by the end of 2023.

More than 30 conditions listed in China's official rare disease catalog still lack a single approved treatment, according to the Chinese Organization for Rare Disorders, a non-profit patient advocacy group.

Regulatory progress and challenges

China has made significant strides in addressing this issue, with regulatory support playing a crucial role.

More than half of the orphan drugs introduced into China between 2019 and 2023 benefited from priority review in an expedited approval process initiated by the National Medical Products Administration. However, regulatory hurdles persist, and recent policy shifts have raised concerns.

One challenge is the suspension of updates to the "List of Overseas New Drugs Urgently Needed in Clinical Settings." Inclusion in this list increases the likelihood of priority review, expedited approval and faster market entry.

The suspension makes it difficult for drugmakers to plan long-term strategies and has left some wondering whether China can maintain its momentum in approving drugs for rare disease. A stable and predictable regulatory pathway is essential to ensure continued progress and to bring life-saving treatments to China more efficiently.

High costs and uncertain reimbursement

In addition to regulatory hurdles, high drug prices are another substantial barrier. In the past five years, most imported rare-disease therapies introduced into China have been priced above 300,000 yuan (US$41,000) annually, according to the rare-disorders organization.

While there has been an increase in the number of mid-range priced drugs since 2020, ultra-high-cost therapies have seen slower market entry. This delay can be attributed to uncertain reimbursement mechanisms and concerns over market exclusivity.

The National Reimbursement Drug List includes 57 percent of orphan drugs introduced between 2019 and 2023, but coverage remains uneven. Some drugs are included in regional funding programs, but many still struggle to gain hospital access.

Even when drugs are included in reimbursement schemes, distribution problems remain. Some drugs are available in over 500 hospitals, while others are available in only a few.

The "dual-channel system," which was designed to allow outpatient pharmacies to supplement hospital supplies, has yet to reach its full potential. Companies report that retail uptake often falls short of expectations, and without a robust last-mile distribution strategy, even reimbursed drugs may fail to reach the patients who need them most.

The role of special pilot zones

China has experimented with special access zones designed to fast-track treatments for rare diseases. These initiatives include the Bo'ao Lecheng International Medical Tourism Pilot Zone in Hainan Province, the Guangdong-Hong Kong-Macau Greater Bay Area, and the newly established Beijing Tianzhu Rare Disease Medication Supply Pilot Zone.

Bo'ao has developed a structured access model, leveraging private insurance schemes to facilitate access, but its geographic isolation limits patient reach. The Greater Bay Area initiative benefits from strong infrastructure but lacks a dedicated reimbursement framework, making long-term access uncertain. Meanwhile, Beijing's Tianzhu zone is still in its early stages, and its effectiveness remains to be seen.

These pilot zones provide valuable lessons in innovative access models, but isolated efforts will not be enough. To have a lasting impact, policy integration at the national level is necessary to scale these initiatives and ensure broader access across the country.

A policy roadmap for the future

To close the gap and ensure that rare-disease treatments are accessible to all patients, China must adopt a more cohesive and integrated policy framework. Drawing inspiration recommendations put forth by the Chinese Organization for Rare Disorders, the nation's policymakers should focus on the following key areas.

A pivotal step forward would be the enactment of a rare-disease law that includes clear definitions for orphan drug designation, guarantees market exclusivity and extends additional regulatory incentives. Establishing such a law would align China with global best practices, fostering innovation in the rare-disease space and encouraging foreign companies to bring their treatments to China.

In parallel, a predictable, transparent regulatory environment is vital. By regularly updating the "List of Overseas New Drugs Urgently Needed in Clinical Settings," China can offer drug manufacturers clearer guidelines on which treatments are prioritized. The stability and predictability of the approval process would increase global confidence in the Chinese market, potentially accelerating access to treatments.

Pricing reforms are also essential. High-cost drugs need market incentives to encourage their entry into the market. One possible solution is the introduction of a tiered pricing mechanism that balances affordability with the need for investment in the sector. Innovative reimbursement models, such as outcome-based pricing, could ensure patient access without deterring drug developers.

The Chinese government should also work toward broadening the National Reimbursement Drug List to include a larger share of rare-disease drugs, while improving the overall distribution mechanisms. By streamlining reimbursement processes and ensuring equitable drug access across regions, China can reduce the disparity between urban and rural health care, ensuring no patient is left behind.

Improving hospital access and ensuring the dual-channel system reaches its full potential will be essential. Integrating hospitals and retail pharmacies more effectively, supported by digital prescription flows, can reduce bottlenecks and ensure that approved drugs make it to patients more quickly and efficiently.

Collaboration with private insurers and tech companies could further enhance distribution networks, making rare-disease treatments widely available across the country.

Effective plan execution needed

China has made commendable progress in orphan drug accessibility. However, addressing the needs of patients requires a cohesive policy framework – one that incentivizes innovation, accelerates approvals and ensures that life-saving treatments are not just available but truly accessible.

The blueprint is clear, but it will require bold leadership, collaboration and a commitment to putting patients first. The time to act is now – because patients who suffer don't have time on their side.

The author is an adjunct research fellow at the Research Center for Global Public Opinion of China, Shanghai International Studies University, and founding partner of 3am Consulting, a consultancy specializing in global communications. He has no conflict of interests to declare.