Frost & Sullivan was invited to attend the 2026 Shanghai Rare Diseases Public Welfare Care and Innovation Development Exchange Meeting, sharing the strategic value of rare disease innovation and China's development opportunities

The 2026 Rare Diseases Public Welfare Care and Innovation Development Exchange Meeting, with the theme "Public Welfare Protects Rare Lives, Innovation Builds a Healthy Future," was held in Shanghai on September 20. As an important part of the Shanghai International Biopharmaceutical Industry Week, the conference was guided by the Organizing Committee of the Shanghai International Biopharmaceutical Industry Week, hosted by the Shanghai Song Qingling Foundation, supported by the Shanghai Medical Association and the Rare Diseases Industry Development Alliance. Representatives from medicine, research, policy, public welfare, industry, insurance, and patient organizations from various fields attended. Wang Peng, Consulting Director of Frost & Sullivan, was invited to attend and delivered a speech titled "Value Reconfiguration - Redefining the Strategic Value of Rare Disease Innovation and China's Development Opportunities."

Wang Peng pointed out that rare diseases are not "rarity." Approximately 71.9% of known rare diseases worldwide are gene-related. There are over 300 million rare disease patients, accounting for 3.5% to 5.9% of the global population. 90% of rare diseases lack effective treatment options, and only about 10% of diseases have corresponding therapeutic drugs. There are over 4,000 known rare diseases in China, with more than 20 million rare disease patients.

The global rare disease drug market is rapidly expanding, and China is at a critical stage of development. The global rare disease drug market increased from $135.1 billion in 2020 to an estimated $383.3 billion in 2030, with a compound annual growth rate of 11.0% from 2020 to 2030. China's rare disease drug market increased from $1.3 billion in 2020 to an estimated $25.9 billion in 2030, with a compound annual growth rate of 34.5%. China's share of the global market: 0.4% in 2016, 1.0% in 2020, and 6.8% expected in 2030—the penetration gap represents the growth potential. Multinational pharmaceutical companies are positioning themselves for hundreds of billions in mergers and acquisitions, and Chinese forces are accelerating their entry, moving from license-in to source innovation.

Wang Peng specifically noted that rare diseases have become the initial market for new technologies, and rare disease research and development have strategic value. Four major trends: Cell and Gene Therapy (CGT): The FDA has approved 46 CGT products (as of 2025); there are approximately 3,200 active gene therapy clinical trials globally, with 940 in China, the highest in the world. Small nucleic acid drugs: 21 products have been launched globally (mainly ASO + siRNA), with initial indications focused on rare genetic diseases such as SMA, DMD, and ATTR; the clinical success rate of leading companies is about 62%, far exceeding the industry average of 5.7%. AI-assisted research and diagnosis: China's NRDRS has established 253 research cohorts and registered over 90,000 cases.

Taking PCSK9 as an example, Wang Peng explained that a rare disease target can create a major market for chronic diseases. In 2003, a PCSK9 mutation was discovered in a family with familial hypercholesterolemia (FH) in France; the nonsense mutation in low-cholesterol individuals confirmed it as a drug target. In 2007, Amgen analyzed the crystal structure of PCSK9, and antibody development began. In 2015, alirocumab was approved, expanding from FH to the ASCVD population. In 2020, Inclisiran was approved, the first PCSK9 siRNA, administered every six months. In 2021, the annual sales of alirocumab exceeded $1 billion, becoming a major product. In 2023, tolisertib was approved, the first domestic PCSK9 inhibitor. In 2024, small nucleic acid PCSK9 inhibitors successfully obtained approval in both China and the US. In 2025, Lerodalcibep was approved, a long-acting small-binding protein, administered monthly. In 2026, PCSK9 base editor was announced, gene editing therapy achieved clinical validation, and the world's first oral PCSK9 inhibitor was approved. Rare disease research is not scientific scraps, but a "source project" for major diseases. Starting from rare single-gene disease FH, it can benefit hundreds of millions of people with high cholesterol and cardiovascular diseases worldwide.

Finally, the research and development of new rare disease drugs is the next chapter of the country's science and technology strategy. We should re-evaluate rare diseases from a "strategic asset" perspective, expand multi-level payment systems, strengthen registration data bases, stabilize expectations for source innovation, treat rare diseases as the "initial market" for source innovation, use rare disease verification platform technologies to extend to common diseases, and build a collaborative network of "medicine, drugs, insurance, and research," promoting early diagnosis, real-world studies, and diversified co-payments, ensuring that no small group is left behind.