China's National Rare Disease Catalogue Finalized with 121 Conditions Listed by Five Ministries

VCBeat has learned that the National List of Rare Diseases, comprising a total of 121 conditions, has been finalized. The list was jointly released by five departments, including the National Health Commission, the Ministry of Science and Technology, the Ministry of Industry and Information Technology, the National Medical Products Administration, and the National Administration of Traditional Chinese Medicine.

Rare diseases refer to a class of disorders with very low prevalence, which are often severe, chronic, genetic, and frequently life-threatening.

Rare diseases represent one of the greatest challenges facing human medicine. Among the nearly 7,000 known rare diseases, China has more than 10 million patients; however, fewer than 40% receive a confirmed diagnosis, with the average diagnostic journey taking five years.

Currently, there is a widespread phenomenon of insufficient research investment, low diagnosis rates, lack of effective treatment options, and frequent exclusion of medications from national health insurance systems. In the vast majority of countries, including China, patients face the predicament of “no access to medical care,” “no availability of effective drugs,” and “no insurance coverage for medications.”

Over the past three decades, countries and regions in Europe and the United States have forged a proactive and effective pathway. Through the concerted efforts of all stakeholders, they have achieved substantial progress in rare disease research, diagnosis, treatment, drug development, market access, and healthcare coverage. A review of these experiences reveals that the most critical measure has been the design of an innovative incentive-based institutional framework centered on patients.

In the United States, the Orphan Drug Act (ODA) was enacted in 1983. As of 2015, the U.S. Food and Drug Administration (FDA) had granted 3,647 orphan drug designations and approved 554 orphan drugs for marketing, bringing new hope for the diagnosis and treatment of 277 rare diseases.

Although China still lags significantly behind Europe, the United States, and other regions in the field of rare diseases, it has witnessed rapid development in recent years. Through the concerted efforts of all stakeholders, public awareness has been effectively raised, diagnostic and therapeutic standards have continuously improved, various regions are actively exploring insurance coverage pathways for rare diseases, and patient advocacy groups are vigorously voicing their concerns. These combined efforts are driving the comprehensive resolution of rare disease challenges in a positive and effective direction.

Previously, China had no official definition of rare diseases.How to Improve the Diagnosis Rate of Rare Diseases and Reduce Patient Costs: Current Challenges Faced by Patients with Rare DiseasesThe release of this national-level catalog is the result of concerted efforts across the industry, bringing new hope to families of patients with rare diseases as well as to the rare disease and orphan drug sector.

Source: Center for Rare Diseases (CORD), National List of Rare Diseases