Progress made in rare disease treatment

From improving early screening and diagnosis of rare diseases to lowering costly drug prices, China has strengthened comprehensive support and care for rare disease patients in recent years, according to health officials.

Yu Xuejun, vice-minister of the National Health Commission, said during an event that 323 hospitals across China have established a cooperation network for rare diseases, devoted to facilitating the referral of patients, online medical consultations as well as formulating diagnosis and treatment guidelines.

China has more than 20 million people living with rare diseases and 200,000 people get diagnosed with a rare disease annually, according to data from the China Alliance for Rare Diseases.

Since over 90 percent of rare diseases cannot be effectively treated, prevention is vital, Yu said during the opening ceremony of the 2022 China Conference on Rare Diseases held on Saturday.

Song Li, head of the commission's department of maternal and child health, said that the majority of the 8,000-plus types of birth defects are classified as rare diseases.

China has set up more than 4,800 prenatal screening institutions, and nearly 500 facilities that can make confirmatory diagnoses.

"Screening tests for genetic or metabolic diseases of newborns have been popularized in many provinces and cities," she said, adding that comprehensive efforts should be rolled out, covering premarital, preconception and newborn care to reduce risk factors of rare diseases.

Huang Guo, deputy director of the National Medical Products Administration, said that since 2018, China has approved 56 rare disease medications for the market.

"In the future, we will continue to advance the research and development of innovative rare disease medications, and encourage the use of foreign novel drugs for R&D, clinical research and registration on the mainland at the same pace as they are performed overseas, to bring better drugs for rare disease patients in China more quickly," he said.

To incentivize drug development, Bi Jingquan, deputy director of the China Center for International Economic Exchanges, suggested extending market exclusivity periods for newly developed rare disease drugs from six to 10 years, which would make Chinese standards align with rules in Japan and the European Union.

Huang Huabo, an official with the National Healthcare Security Administration, said that 19 rare disease medications have been added to the national medical reimbursement list since 2018, leading to an average price cut of 52.6 percent.

The list now contains 45 kinds of rare disease drugs, covering 26 types of diseases.

"Through negotiations with drugmakers, the amount of out-of-pocket expenditures paid by rare disease patients from 2019 to 2021 has been lowered by 92.8 percent," Huang said.

A typical example is the list's inclusion last year of Nusinersen, a medication used to treat spinal muscular atrophy — a rare neuromuscular disorder. The price of the drug has been slashed by more than 90 percent.

He said it is estimated that from January to September, the number of patients receiving the drug had increased by 2,000. The drugmaker also saw a threefold jump in its sales.

"Bringing down the prices of these costly drugs through drug negotiations has not only alleviated financial burdens on patients and boosted their availability, but has also benefited enterprises," he said.