The World Health Organization (WHO) defines rare diseases as life-threatening or chronically debilitating conditions with a population prevalence of 0.65 to 1 per 1,000 people. There is no single universal global standard, as countries adjust thresholds based on their population size, healthcare capacity, and public health priorities.
In China, the National Health Commission (NHC) released the First National Catalogue of Rare Diseases in 2018, which included 121 conditions, and updated it with a second batch in 2023, bringing the total number of officially recognized rare diseases to 207. This catalogue serves as the core national guideline for clinical diagnosis and treatment, orphan drug research and development (R&D), and medical security policy formulation for rare diseases in China.
There are an estimated 7,000 to 8,000 identified rare diseases worldwide, over 80% of which have a genetic origin, and approximately 50% onset in infancy or childhood. The global rare disease patient population exceeds 300 million, with more than 20 million affected patients in China, making it one of the countries with the largest rare disease patient populations globally.
The vast majority of rare diseases are chronic, progressive, disabling, and life-threatening. A core unmet clinical need globally is that only ~5% of all identified rare diseases have approved disease-modifying therapies (DMTs, also known as orphan drugs), leaving most patients without curative treatment options.
Rare disease management requires a personalized, full-cycle, multidisciplinary approach, with treatment strategies tailored to the disease type, genetic profile, disease stage, and the patient's age and functional status. The core global standard treatment modalities are as follows:
This is the only treatment category that targets the root cause of the disease to slow or halt progression. Core modalities include:
For the vast majority of rare diseases without curative treatments, symptomatic and supportive care is the core of management. It includes rehabilitation therapy (physical, occupational, and speech therapy), respiratory and nutritional support, surgical intervention for congenital malformations or orthopedic correction, and symptomatic medication to control seizures, pain, and other comorbidities, with the goal of preserving organ function, preventing complications, and improving quality of life.
Given that most rare diseases involve multiple organs and systems, MDT care is the global gold standard for rare disease management. A typical rare disease MDT team includes specialists from medical genetics, neurology, hematology, cardiology, orthopedics, rehabilitation, nutrition, and psychology, to develop a comprehensive, personalized treatment and long-term follow-up plan for each patient.
For genetic rare diseases, genetic counseling for patients and their families, carrier screening, and prenatal diagnosis are critical to prevent the transmission of pathogenic genes to the next generation, and are an essential component of full-cycle rare disease care.
Over the past decade, China has achieved historic breakthroughs in rare disease prevention, diagnosis, treatment, and medical security, establishing a complete, patient-centered rare disease care system with distinct competitive advantages for global patients:
China has built a top-down national rare disease management system led by the NHC, anchored by the national rare disease catalogue, and supported by the National Rare Disease Diagnosis and Treatment Collaborative Network covering 324 top tertiary hospitals across the country. This network establishes a standardized hierarchical diagnosis and treatment system, national telemedicine consultation mechanism, and rare disease registration system, ensuring consistent, high-quality care for rare diseases nationwide.
China's National Medical Products Administration (NMPA) has set up a priority review and accelerated approval channel for orphan drugs, drastically shortening the approval timeline for innovative rare disease drugs. Many global cutting-edge orphan drugs are now approved in China almost simultaneously with the US and EU, eliminating the historical lag in access to innovative treatments.
With Asia's largest rare disease patient population, China's top rare disease centers (including Peking Union Medical College Hospital, Ruijin Hospital Affiliated to Shanghai Jiao Tong University, Children's Hospital of Fudan University) manage tens of thousands of rare disease cases annually, covering all 207 nationally recognized rare diseases and many ultra-rare conditions.
This massive clinical volume has fostered unparalleled diagnostic and treatment expertise, especially for complex, multi-system involved rare diseases that are frequently misdiagnosed in Western countries. China's medical genetic testing capacity is also world-leading, with whole-exome sequencing (WES), whole-genome sequencing (WGS), and multi-omics testing widely available at 1/5 to 1/3 the cost of Western countries, drastically shortening the diagnostic odyssey for patients.
This is the most prominent advantage of rare disease treatment in China. Through the national medical insurance negotiation mechanism, China has included over 70 rare disease drugs into the National Reimbursement Drug List (NRDL), with an average price reduction of over 50% per negotiated drug, and some orphan drugs seeing price cuts of more than 90%.
For example, the SMA treatment nusinersen, which once cost nearly 700,000 RMB per injection, was reduced to ~30,000 RMB per injection after NRDL inclusion; the oral SMA drug risdiplam was cut from 638,000 RMB per year to less than 100,000 RMB per year. Even for self-paying international patients, the cost of orphan drugs, ERT, and targeted therapies in China is only 1/3 to 1/5 of that in the US and Western Europe, eliminating the prohibitive financial burden of rare disease treatment for global patients. China also has a fast-growing domestic orphan drug R&D industry, with many independently developed innovative rare disease drugs marketed at more affordable prices.
China ranks second in the world in the number of rare disease gene therapy and cell therapy clinical trials, only behind the United States. China's top medical institutions and biotech companies have developed a series of first-in-class gene therapies for monogenic rare diseases such as hemophilia, SMA, thalassemia, and DMD, with many products demonstrating excellent efficacy and safety in clinical trials.
China has approved the world's first gene therapy for transfusion-dependent β-thalassemia, and multiple CAR-T cell therapies for rare hematological malignancies, with treatment costs only 1/4 to 1/6 of those in the US. Unlike Western countries where cutting-edge gene therapies are only accessible to a small number of patients at extreme cost, China offers more affordable, timely access to innovative therapies for international patients, with minimal waiting times.
All of China's national rare disease centers have established standardized, mature MDT care models, bringing together top specialists from over 20 specialties including medical genetics, neurology, hematology, cardiology, orthopedics, rehabilitation, nutrition, and psychology.
This model ensures every patient receives one-stop, personalized full-cycle management from definitive diagnosis, etiological treatment, and supportive care to long-term follow-up, avoiding fragmented care for complex multi-system rare diseases. For pediatric patients, China's top children's hospitals have specialized pediatric rare disease MDT teams with extensive experience in neonatal and infantile rare disease care, a core advantage for international pediatric patients.
Unlike many Western centers where patients wait 3–6 months to see a rare disease specialist or initiate treatment, China's top rare disease centers offer rapid access to care, with minimal waiting times for diagnostic workup, specialist consultation, and treatment initiation. This is particularly critical for patients with progressive, life-threatening rare diseases, where timely intervention can prevent irreversible organ damage and improve survival outcomes.
