There are over 7,000 different rare diseases globally, many of which affect only a handful of patients. However, given the scale of China’s population, rare diseases in the country take on an increased significance, something that Chinese policymakers have worked to address in recent years.
“China now introduces new policies on rare diseases annually,” explains Song Ruilin of local industry association PhIRDA. “Whereas in the past, policies concerning rare diseases were few, now almost all healthcare-related documents encompass aspects of rare disease prevention and treatment.”
Moreover, an entire rare disease ecosystem has sprung up in tandem. “Not only do we now have very active rare disease patient organisations, but PhIRDA, the Chinese Hospital Association, and Peking Union Medical College Hospital have established the China Alliance for Rare Diseases,” adds Song. “Every year on International Rare Disease Day, we hold the China Rare Diseases Conference, thereby raising societal awareness about the significance of preventing and treating rare diseases.”
The most significant recent milestone in China’s move to address rare diseases was the publication of the first national rare disease list in 2018. This move grants preferential treatment to companies developing, commercialising, or importing treatments for diseases included on the list, with the aim of accelerating their availability for Chinese physicians and patients.
And China did not stop there, circumventing some of the usual regulatory red tape to provide faster access to orphan drugs. As James Xue, founder, chairman and CEO of CANbridge Pharmaceuticals – the first public company in Asia to be squarely focused on rare diseases at the time of its 2021 Hong Kong IPO – points out, “The Chinese National Medical Products Administration (NMPA) has also issued guidelines to expedite the approval of rare disease products listed in the national rare disease list, often without the need for additional bridging studies in China.”
Xue – who cut his teeth building up the China operations of rare disease pioneer Genzyme back in the early 2000s – adds, “This expedited process is particularly important for genetic diseases and other conditions where existing treatments developed in other countries can be quickly made available to patients in China, even if the original clinical trials did not include diverse cohorts reflective of the Chinese population.”
Looking forward, Xue feels that an important next step for China would be creating a standardised definition of a rare disease (as exists in the US, where it is defined as one affecting a population of 200,000 or fewer individuals). He also suggests that in the future China will not merely be an earlier recipient of foreign innovation in rare disease treatments, but increasingly an international exporter.
“Rare diseases present a level playing field where Chinese companies can compete effectively,” he proclaims, challenging his Chinese biotech counterparts currently pursuing pipelines in other – perhaps less challenging – areas to step up to the mark. “With tools spanning biological proteins, recombinant technologies, and even RNA and DNA levels, Chinese firms are well-equipped to make a global impact on rare diseases. It is now about their determination to pursue these significant opportunities.”
