February 28 marks this year's International Rare Disease Day, a day for raising people's awareness of rare diseases and improving the availability of their treatments. Rare diseases refer to diseases that generally have a low incidence. One rare disease affects a small percentage of the population, but a huge number of over 300 million1 people are suffering from about 7,000 types2 of rare diseases worldwide.
In China, the number of rare disease patients has exceeded 20 million, with more than 200,000 new patients annually. There are some common predicaments among patients: misdiagnosis or missed diagnosis; no treatments are available for their diseases; and some available therapies are too expensive.
To solve the problems, China has been making efforts on multiple aspects—improving hospitals' diagnosis and treatment capabilities, encouraging drug R&D, expediting marketing approval, and reimbursing part of the medical expenses.
1. China Improves Diagnosis and Treatment of Rare Diseases
In 2018, National Health Commission (NHC) and other four authorities issued China's First Catalog of Rare Diseases, including 121 rare diseases like congenital scoliosis and spinal muscular atrophy (SMA).3
In February 2019, NHC released the Guidance for Diagnosis and Treatment of Rare Diseases (2019), introducing the aforementioned 121 rare diseases in terms of cause, epidemiology, symptom, auxiliary examination, identification, diagnosis, treatment, and monitoring.4
In February 2019, NHC selected 324 hospitals to establish a network for coordinated diagnosis and treatment of rare diseases.5 Hospitals in the network receive rare disease patients collectively and make referrals to give corresponding care to patients according to their disease stages. In the network, national-level hospitals and provincial-level leading hospitals receive rare diseases patients with difficult and precarious situations from member hospitals. After cooperative diagnosis, patients with clear diagnosis and in recovery or stable stage are referred back to member hospitals.
In November 2019, China Rare Disease Diagnosis and Treatment Information System launched by NHC came into use at the 324 hospitals mentioned above. The system has collected information of about 500,000 rare disease cases6, which helps the authority know the disease distribution to allocate medical resources accordingly.
2. China Encourages Development and Import of Rare Disease Drugs and Expedites Marketing Authorization
Regulation/Policy/Measure/Guideline | Effective Date | |
R&D | Foreign clinical data can be accepted (if the data is free from ethnic differences) for supporting marketing approval of rare disease drugs that have been approved overseas.7 | May 23, 2018 |
Technical Guidelines for Clinical Research of Rare Disease Drugs says real-world study can support the approved drug to add a new indication of rare disease.8 | Jan. 6, 2022 | |
Review | Technical review's time limit is reduced to 3 months9 for rare disease drugs in the List of Overseas New Drugs Urgently Needed in China's Clinical Settings. | Oct. 30, 2018 |
technical review's time limit is reduced to 70 workdays10 for rare disease drugs that have been approved overseas. | July 1, 2020 | |
Tax | Value-added tax (VAT) is reduced to 3% for 35 rare disease drug products (21 in the 1st batch; 14 in the 2nd batch) and 4 active pharmaceutical ingredients.11 *The drugs are listed in the appendix at the end of this article. | 1st batch: March 1, 2019 |
2nd batch: Oct. 1, 2020 | ||
Tariffs are reduced to zero for 4 foreign APIs (penicillamine, pirfenidone, riluzole, and bosentan) of rare disease drugs.12 | Jan. 1, 2021 |
3. China Promotes Availability of Rare Disease Drugs Via Reimbursement and Volume-based Procurement
So far over 40 approved drugs have been included into the National reimbursement Drug List (NRDL), a list of drugs reimbursed by the national healthcare insurance. Thanks to the price cut to get into the NRDL, some rare disease drugs have become affordable to patients. For example, Biogen's Spinraza for treating spinal muscular atrophy cut its price from 700,000 yuan per dose to 33,000 yuan per dose, relieving the economic burden for SMA patients. [Read More].
China's volume-based procurement (VBP) program also makes rare disease drugs available to patients at lower prices. Ambrisentan for treating pulmonary hypertension entered the VBP program after its price was slashed from 115.97 yuan/tablet to 20 yuan/tablet in 2020, contributing to its higher availability among patients.
4. Rare Disease Drug Companies Tap into Market Potential in China
China has approved more than 60 rare disease drugs, but they are far from meeting all the clinical needs. Moreover, the clinical needs are expected to grow as the cases increase. According to Frost & Sullivan, China's rare disease drug market will expand from $1.3 billion in 2020 to $25.9 billion in 2030, with a compound annual growth rate of 34.5%.13
Seeing the market potential, some Chinese pharmaceutical companies have set up pipelines to make rare disease drugs or made licensing deals to introduce foreign drugs into China.
For instance, Canbridge Pharma is a China-based company focusing on developing rare disease therapies. It has established pipelines for seven biologics, small molecule drugs, and candidate drugs to treat rare diseases such as Hunter Syndrome, lysosomal storage diseases (LSD), and Fabry Disease.14 The company has three rare disease drugs approved by China NMPA, namely Hunterase, Nerlynx, and Caphosol, all introduced from foreign countries.
More pharmaceutical companies can be on the way to developing rare disease therapies as China may offer more incentive policies in the future. Ding Lieming, deputy of the National People's Congress and CEO at Betta Pharmaceuticals, says at the NPC's 2022 meeting, he will propose waiving registration fees and setting marketing exclusivity for rare disease drugs.15 With more regulatory support in the future, more drugs for rare diseases may emerge in China.
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Appendix: 35 Rare Disease Drugs and 4 Active Pharmaceutical Ingredients (API) with the Preferential Value-added Tax of 3%
1st Batch: 21 Rare Disease Drugs with VAT of 3% since March 1, 2019 | ||||
No. | API | Drug Product | Approved Dosage Form | Tax Number |
1 | bosentan | Bosentan Tablets | Tablet | 30049010 |
2 | Ambrisentan | Ambrisentan Tablets | Tablet | 30049090 |
3 | Riociguat | Riociguat Tablets | Tablet | 30049090 |
4 | Macitentan | Macitentan Tablets | Tablet | 30049090 |
5 | Iloprost | Iloprost Solution for Inhalation | Solution | 30043900 |
6 | Treprostinil | Treprostinil Injection | Injection | 30043900 |
7 | Pirfenidone | Pirfenidone Capsules | Capsule | 30049090 |
8 | Nintedanib | Nintedanib Esilate Soft Capsules | Capsule | 30049090 |
9 | / | Imiglucerase for Injection | Injection | 30049090 |
10 | / | Alglucosidase Alfa for Injection | Injection | 30049090 |
11 | Miglustat | Miglustat Capsules | Capsule | 30049090 |
12 | / | Recombinant Human Growth Hormone Injection | Injection | 30043900 |
13 | Sapropterin | Sapropterin Dihydrochloride Tablets | Tablet | 30049090 |
14 | / | Recombinant Human Interferon Beta 1a Solution for Injection | Injection | 30021500 |
15 | Penicillamine | Penicillamine Tablets | Tablet | 30049090 |
16 | Riluzole | Riluzole Tablets | Tablet | 30049090 |
17 | / | Human Coagulation Factor Ⅷ | Injection; lyophilized powder for injection or infusion | 30021200 |
18 | / | Recombinant Human Coagulation Factor Ⅷ For Injection | Injection | 30021200 |
19 | / | Recombinant Human Coagulation Factor IX For Injection | Injection | 30021200 |
20 | / | Human Prothrombin Complex | Injection; lyophilized powder for injection or infusion | 30021200 |
21 | / | Recombinant Human Coagulation Factor VIIa for Injection (Eptacog alfa, activated) | Injection | 30021200 |
1st Batch: 4 APIs with VAT of 3% since March, 2019 | ||||
No. | API | Drug Product | Approved Dosage Form | Tax Number |
1 | Bosentan | / | / | 29359000 |
2 | Pirfenidone | / | / | 29337900 |
3 | Penicillamine | / | / | 29309090 |
4 | Riluzole | / | / | 29342000 |
2nd Batch: 14 Rare Disease Drugs with VAT of 3% since Oct 1, 2020 | ||||
No. | API | Drug Product | Approved Dosage Form | Tax Number |
1 | Recombinant Human Interferon Beta-1b | Recombinant Human Interferon Beta-1b for Injection | Injection | 30021500 |
2 | Teriflunomide | Teriflunomide Tablets | Tablet | 30049090 |
3 | Nusinersen Sodium | Nusinersen Sodium Injection | Injection | 30049090 |
4 | Fingolimod | Fingolimod Hydrochloride Capsules | Capsule | 30049090 |
5 | Selexipag | Selexipag Tablets | Tablet | 30049010 |
6 | Eculizumab | Eculizumab Injection | Injection | 30021500 |
7 | Emicizumab | Emicizumab Injection | Injection | 30021500 |
8 | Bosentan | Bosentan Dispersible Tablets | Tablet | 30049010 |
9 | Deutetrabenazine | Deutetrabenazine Tablet | Tablet | 30049090 |
10 | Siponimod | Siponimod Tablets | Tablet | 30049090 |
11 | Agalsidase Beta | Agalsidase Beta for Injection | Injection | 30049090 |
12 | Elosulfase Alfa | Elosulfase Alfa Injection | Injection | 30049090 |
13 | Laronidase | Laronidase Concentrated Solution for Infusion | Injection | 30049090 |
14 | Human Coagulation Factor Ⅸ | Human Coagulation Factor Ⅸ | Injection | 30021200 |