China Releases 2025 Clinical Guidelines for 86 Rare Diseases

Source: Dengyuemed | July 11, 2025 | Category: Rare Diseases

On July 10, the General Office of the National Health Commission (NHC) of China officially released the 2025 Edition of Clinical Guidelines for 86 Rare Diseases, aiming to standardize diagnosis and treatment across the country and enhance the quality and safety of rare disease care.

This announcement follows the September 2023 release of China’s Second National Rare Disease List, which included 86 rare diseases such as achondroplasia and acquired hemophilia.

To support more consistent and evidence-based care, the NHC has developed individual diagnostic and treatment guidelines for each disease on the list.

Dr. Li Linkang, Executive Director of the China Alliance for Rare Diseases, emphasized that the guidelines offer clear recommendations on clinical manifestations, diagnostic approaches, and medical interventions.

“This reflects China’s commitment to a life-course approach to individual health and provides vital guidance for early screening and treatment of rare diseases,” he said.

According to the newly published guidelines, Achondroplasia (ACH) is a genetic disorder characterized by disproportionate short stature.

Typical clinical features include shortened proximal limb bones, macrocephaly, trident hands, and distinctive facial features such as frontal bossing and midface hypoplasia.

Diagnosis primarily relies on clinical presentation and radiographic findings.

While only one causative treatment has been approved overseas, no targeted therapies are currently approved in China.

Treatment remains supportive and symptom-focused, with multidisciplinary monitoring critical for managing growth and complications in diagnosed children.

China has made significant strides in rare disease policy over recent years.

The first national rare disease list, released in 2018, included 121 conditions and was accompanied by corresponding clinical guidelines.

The same year saw the establishment of the China Alliance for Rare Diseases, promoting cross-sector collaboration.

An estimated 20 million people in China live with rare diseases, with over 200,000 new cases each year.

The 2025 National Reimbursement Drug List, set to take effect on January 1, adds 13 new rare disease medications.

Treatments for conditions like spinal muscular atrophy (SMA), Gaucher disease, and myasthenia gravis have recently been included, bringing the total to over 90 rare disease drugs now covered under China’s national health insurance—significantly easing the financial burden on patients.

This article was compiled by Dengyue. We welcome corrections, insights, and discussion on the latest developments in pharmaceutical and rare disease news.