Eric Bouteiller outlines the paradigm shift occurring in China around rare diseases and how the country has the potential to lead the global pharmaceutical industry in this vital area.


Through exchanges with public officials, academics, representatives of patient associations and industry experts, we sensed a paradigm shift

The 8th China Rare Disease Summit held in Shenzhen on September 21st 2019, was a great opportunity to measure the progress made by China in its drug policy for patients suffering from rare diseases. In China, there is not yet a specific definition, but it is under study. In the US, a rare disease is defined as affecting 75 in every 100,000 people, in Japan the definition is 40 out of 100,000 and in the EU is it 20 out of 100,000. Unlike in mature markets, China has not made any progress in this field in the last two decades.


However, at this Shenzhen event, through exchanges with public officials, academics, representatives of patient associations and industry experts, we sensed a paradigm shift. There are three fundamental changes, that are interconnected but not yet at the same level of maturity.


First, regulatory reform has been successfully implemented. There is no more major backlog in the drug registration process. More importantly, the National Medical Product Administration (NMPA) has created an accelerated pathway for products for urgent needs and for which foreign data would be acceptable (if they demonstrate no racial or ethnic difference that would affect the efficacy). Then, a list of 121 rare diseases has been issued by the National Health Commission (NHC) in February 2019. It is far away from the total number of rare diseases, which is estimated to be in the range of 7,000. But it is a first step towards recognizing the urgent needs of Chinese patients and the deficiency of the current Chinese drug system which is not supplying these drugs. Another batch of drugs in urgent needs is in preparation and its publication will show continuous improvement in this area.


Second, the authorities are changing their attitudes towards patient groups and associations. China is a communist country and has been historically very reluctant to recognize grass-roots organizations that the Party does not control. In the case of rare diseases, patient associations are even more important as the market rule prevents the “natural“ development of drugs. There are a very limited number of patients. Also, these diseases are unknown to most physicians. In China on average, a patient suffering from a rare disease needs to wander around in the health system for five years before finding the right diagnosis. Therefore, the authorities are no more trying to shut down the patient groups but are recognizing them. The event in Shenzhen was organized by one of the patient associations and the NMPA allowed them to make the opening speech, de facto recognizing the association. We all hope that formal recognition of such groups (through legal registration) will progress soon. Even more meaningful will be their joining in with the NMPA‘s registration decision-making. We understand it is under consideration.


The third fundamental change is funding. Economic considerations are more important than for “normal” diseases. Treatments are more costly as patients numbers are limited and access is more difficult as only a few medical centres are able to make a correct diagnosis. As for drug policy in China, pricing and reimbursement reform is taking a long time compared to registration reform, but progress is coming. During the event it was confirmed that the State Medical Insurance Administration (SMIA) is considering a specific fund to cover rare diseases‘ costs. The total amount could be in the range of RMB 500,000 (USD 70,000) per patient (this is not yet confirmed). The future process is not yet known. Will they use the NHC list? Perhaps a different list altogether? There are still a lot of debates underway between the agencies. A tough one is answering why “small diseases” should be supported, while “big diseases” are not yet covered. A reasonable answer on the financial side would be that the related risk is in fact very limited by the mere fact that these rare diseases are “rare” and cost cannot drift away.


All this progress has been achieved in the last two years. My last action as chairman of RDPAC was to create a Rare Disease Working Group, but not much has been done by the association in this respect. However, the government has been very consistent and progressive by pushing the pace of reforms against rare diseases. Despite this, the reality on the ground is still very difficult. There is limited diagnosis, most international products are not registered, and product supply often comes via informal channels. We do, though, see that there is light at the end of the tunnel.


If the new paradigms identified above are implemented to their full extent, China could significantly impact the overall course of the global pharmaceutical industry. With 20 percent of the world population, China has the biggest pool of patients. Thus a rare disease in China benefits from a cohort four or five times bigger than those of the EU or US. On the economic side, there is no doubt that the Authorities are willing to find better solutions in term of access than in the US. When reforms are fully operational, China will propose volume and reasonable prices. Professor Hu Shanlian, an eminent Chinese health economist, concluded his speech by wishing one day to see Western countries use China as a reference price when listing new products at home. Today China gets products last in the product life cycle and needs to refer to international prices. But when all the reforms are fully operational, it could be the reverse: China attracts the launch first and then the world would refer to the China price.