Kevin Rufang Huang is the president and founder of the Chinese Organization for Rare Disorders (CORD). A rare disease patient himself, he is responsible for bringing“International Rare Disease Day” to China. Consequently, rare diseases now have much more visibility in the country. As an expert on the subject, Kevin breaks down the status quo of rare diseases and orphan drug access in China, the country’s approach to reimbursement and social medical coverage and the challenges that need to be addressed to ensure rare disease patients in the country receive the treatments they need. 

Inaccessibility and unaffordability are the two biggest obstacles for patients, as a result, more than 50% of the rare disease patient population in China do not receive timely and adequate treatments.


The official “First List of Rare Diseases” was released jointly by 5 government agencies in China in May 2018. 121 rare diseases are included in the list. It is a huge milestone in the development history of China’s rare diseases, signifying the determination from the Chinese government on addressing the accessibility of rare disease drugs. Looking back on the past two years, China has made significant progress unveiling various rare disease policies and regulations on research, diagnosis & treatment, drug access and social medical coverage. As the largest and the most influential and professional rare diseases patient organization, Chinese Organization for Rare Disorders (CORD) is obliged to embark upon a comprehensive review on the status quo on orphan drug access and social medical coverage at home and abroad. Based on our deep understanding of the practical needs of the patients and patient families, we share in this report our thoughts and advice, as China begins to systematically tackle the issue of orphan drug access.


Currently, in China,  more than 3 million patients suffering from one of these 121 rare diseases are still facing mounting challenges: difficulty to obtain clear diagnoses; lack of treatment options; the limited number of available orphan drugs in China. Even for those drugs available in China, sourcing still could be a problem and many carry prices so high that they are totally out of reach for most patients without social medical coverage. Inaccessibility and unaffordability are the two biggest obstacles for patients, as a result, more than 50% of the rare disease patient population in China did not receive timely and adequate treatments.


By December 2018, 74 rare diseases in the “First List of Rare Diseases” are considered “curable”. 162 drugs for these 74 rare diseases have been approved by the United States, the European Union or Japan, while 83 drugs (51%) for 53 diseases are approved in China. However, just 55 drugs for 31 rare diseases get definite indication registration in China, and just 29 drugs for 18 rare diseases are covered under the National Medical Insurance, Employment Injury Insurance and Maternity Insurance.



21 Rare Diseases Have Orphan Drugs Available in Other Markets, But Not Approved in China:


Arginase Deficiency Hypophosphatasia Lysosomal Acid Lipase Deficiency Porphyria
Citrullinemia Hypophosphatemic Rickets Mucopolysaccharidosis Retinitis Pigmentosa
Fabry Disease Isovaleric Acidemia NAGS Deficiency Severe Myoclonic Epilepsy in Infancy / Dravet Syndrome
Huntington Disease Laron Syndrome Ornithine Transcarbamylase Deficiency Sickle Cell Disease
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Lysine Urinary Protein Intolerance Phenylketonuria Spinal Muscular Atrophy


There are tremendous obstacles in bringing an orphan drug to China. Drug companies often resign to inaction in an uncertain market. Uncertainties on obtaining market approvals (regulatory hurdles) and subsequent drug sales (income uncertainties due to a small patient population and lack of social medical coverage), and the potential moral and ethical scrutiny cause further dilemma for companies. As a result, most companies choose to “wait and see”.


Lack of orphan drug designation and a separate approval path for orphan drugs pose an invisible wall for drugs to enter the Chinese market. More favourable policies and regulations are needed to encourage orphan drugs to enter China and to obtain registration and market-approvals.


Although some rare diseases have treatment drugs available in China, they are not specifically designated for such diseases. In comparison to the already approved orphan drugs in other markets, the drugs used here in China are secondary or tertiary treatment options with lesser efficacies, leading to less desirable outcomes for patients and their qualities of life.



There are 20 drugs approved in China that could be used to treat 22 rare diseases, although not indicated for.


There are a group of 20 drugs approved in China for other indications. They could be used to treat the 22 rare diseases in the “First List of Rare Diseases”. But they are not approved specifically with these rare diseases indications, thus in principle should not be used to treat them.


With limited availability of the treatment drugs for rare diseases, doctors and researchers are forced to experiment with various prescribing options: off-label, using old drugs for new indications, or even “prescribe to trial” etc.


In order to control off-label usages and avoid drug abuse, most doctors advocate that the prescribing authorization is limited to a few experienced clinicians. This prescribing privilege to a special few, however, also leads to vastly different treatment qualities, causing patients to receive differentiated, incoherent treatment across different regions.


There is a reverse correlation between the size of the patient population and the cost of the treatment: the smaller the population, the higher the price is likely to be.


Drugs for 13 Rare Diseases are not covered by social medical insurance and are too expensive for most patients.


Getting the prescription is just the first step for patients to get treatment. There is a reverse correlation between the size of the patient population and the cost of the treatment: the smaller the population, the higher the price is likely to be. In the past decade, many orphan drugs on the market carry sky-high prices. Without the support of social medical insurance, most patients cannot afford those drugs.


The Chinese government has made good progress on social medical coverage on rare diseases. Among the 55 orphan drugs approved in China, 29 for 18 rare diseases are on the National Health Insurance List, 9 of which for 11 rare diseases are on the Category I Reimbursement scheme, meaning no out-of-pocket payment for patients.


There are still 26 drugs for 21 rare diseases that have not been covered under the social medical insurance. 13 of these 21 don’t have drugs under coverage, which means patients must bear all medical costs on their own. The estimated number of patients for these 13 diseases is around 230,000 in China. Most patients need lifelong treatment. 11 drugs for these 13 diseases cost more than 80,000 yuan per year. Without medical insurance, it is very difficult for patients to afford the full treatments they need and year after year.



“The Last Mile” For Orphan Drugs Access


Even after an orphan drug is approved and listed on the national social insurance list, challenges remain. Between patients and their drugs lie many obstacles. Mainly: 


  1. Hospital procurement restrictions: Orphan drugs, which carry high costs but low demands in comparison to other drugs, pose great challenges to the management of hospital pharmacies.


  1. Physician prescription restrictions: Pressured to keep the desired ratio of drug costs vs. the total insured cost, doctors are constrained to prescribe the orphan drugs to the patients, thus making reimbursement nearly irrelevant.


  1. Restrictions on outpatient reimbursement: There are vast regional differences in reimbursement policies on outpatient costs and costs on chronic and severe diseases. There are many different rules and regulations from different regions in terms of deductible, co-pay ratio, and max out amount.  


  1. Obstacles caused by a less-than-ideal referral system: It is difficult for patients in a non-provincial capital to maintain long-term treatment. They can only choose low-dose treatment, self-medication, or even giving up treatment altogether. Treatment compliance is difficult to reinforce.


  1. Drug deprivation crisis: There are often inadequate supplies of low-cost drugs, manufacturers are sometimes forced to shut down manufacturing, leaving patients with no treatment options.


Underlying all the problems mentioned above is the insufficient coverage of social medical insurance on rare diseases; and the high prices of orphan drugs.  


While the orphan drug accessibility issue poses significant challenges to China’s healthcare reform, it also presents an opportunity. Improving the accessibility of orphan drugs and expanding social medical coverage on rare diseases will provide a breakpoint for healthcare reform. It might also help explore ways to elevate China’s rare disease initiatives, promote innovation and make a contribution to the rare disease space worldwide.