“Even if the orphan drug is developed, if no patient can afford to use it, then it’s meaningless,” said Xu.

There are as many as 7,000 types of rare diseases affecting around 350 million people worldwide, according to Global Genes, a non-profit organisation for individuals and families fighting rare and genetic diseases.

China has around 20 million people who suffer from rare diseases, which are defined as having low prevalence, affecting a small number of patients and being mostly genetic, the advocacy group said.

The products are hugely expensive, if you have a small patient pool, you will never recoup your investment Eric Bouteiller

“China has the biggest pool of rare diseases and patients in the world, and thus could turn this issue to its advantage and make it a differentiating point in its strategy for innovation,” said Eric Bouteiller, adjunct professor of management at the China Europe International Business School, who has 20 years of experience in the Chinese pharmaceutical industry.

But to do so, companies need clear government guidelines and incentives, medical experts said.

“The cost for pharmaceutical development is extremely expensive,” Bouteiller said.

“The products are hugely expensive, if you have a small patient pool, you will never recoup your investment.”

In 2018, some 121 rare diseases were recognised in China and 86 could be treated with therapeutic drugs. Some 77 of those orphan drugs were available in China, while the remaining nine could be found out of the country only, according to a joint report focusing on China’s rare disease industry trends, published by Frost & Sullivan and Illness Challenge Foundation last year.

Of the remaining 35 diseases that are without drugs worldwide, 11 are undergoing pharmaceutical development in clinical trials – but only two of which have clinical trials in China, the report said.

The global market for orphan drugs is expected to reach US$110 billion by 2025, with China’s domestic market reaching around 30 billion yuan (US$4.3 billion), capturing around 5 per cent of the total, according to the report.

There are 331 orphan drugs under research in China, “which is significantly less than the global number”, according to an August report by Insight China Pharma Data by DXY.cn, China’s top medical website.

Bouteiller said the government should come up with clear reimbursement guidelines and policy for rare diseases to boost investment in pharmaceutical innovation.

“Developing a drug is a matter of decades, if the company does not know whether the drug will be reimbursed, they will not do it in the first place, because it is too dangerous,” he said.

Chinese drug makers boost production of fever medicine as Covid-19 cases surge


Chinese drug makers boost production of fever medicine as Covid-19 cases surge

Kevin Huang, the founder of the Chinese Organisation for Rare Disorders, said because the price of orphan drugs is expensive, whether they will qualify for public or private insurance are key factors determining how invested pharmaceutical companies will be in R&D.

“If the payment policy is clear, pharmaceutical companies will have stronger motivation and enthusiasm. Investors will also be willing to invest in rare disease companies,” Haung said, adding R&D in rare diseases was currently a “struggle”.

Last year, seven new orphan drugs were added to the 45 existing ones on the national medical insurance catalogue produced by the National Healthcare Security Administration. The drugs treat a total of 26 rare diseases, according to the state-owned People’s Daily.

A nusinersen sodium injection to treat spinal muscular atrophy, which was initially marketed at 700,000 yuan per injection, entered the medical insurance list at a price of around 33,000 yuan per injection in 2021.

A study showed that 76.4 per cent of patients started using the drug after it was covered by medical insurance, according to the People’s Daily.

Xu has spent around 800,000 yuan of his own money on developing a cure for his son. Fortunately, his story also attracted the attention of global pharmaceutical companies VectorBuilder and Lantu Biopharma, allowing Haoyang to receive the first human trial of a new gene therapy drug for Menkes Disease.

“From the perspective of pharmaceutical companies, a rare disease like ours, a group of some 40 patients, simply does not have any commercial development value,” he said.

“But for rare disease patients, time is life”.