At the Sub-Forum VI “Neurological Rare Diseases – Standardized Center Development and Capacity Building for Idiopathic Inflammatory Demyelinating Diseases (IIDD)” during the 2023 China Rare Diseases Conference, Professor Xu Yan from the Department of Neurology at Peking Union Medical College Hospital was invited to deliver a keynote speech titled “Release and Interpretation of the ‘MS/NMOSD Social Survey White Paper.’”

This white paper is based on research conducted through the China Alliance for Rare Diseases’ MS/NMOSD Base® platform, covering 110 physicians specializing in this field from 27 provinces, municipalities, autonomous regions, and Xinjiang Production and Construction Corps, as well as 477 patients from 30 provinces, municipalities, and Xinjiang Production and Construction Corps.

The white paper provides a comprehensive analysis of the clinical diagnosis and treatment landscape and patient societal burden for multiple sclerosis (MS) and neuromyelitis optica spectrum disorders (NMOSD) from both physician and patient perspectives, offering data-driven insights to support government policymaking.

01. Physician Survey Findings

The first section of the white paper focuses on clinical physician research. Key findings include:

• 96.4% of surveyed physicians were from neurology      departments, with over 70% holding associate senior titles or higher.

• Among their hospitals:

• 78.2% had dedicated neuroimaging specialists.

• 43.6% had dedicated neuro-ophthalmologists.

Regarding diagnostic capabilities:

• 98.2% of hospitals could perform brain MRI,      while spinal cord MRI and optic nerve MRI were      available in 92.7% and 86.4% of hospitals,      respectively.

• Laboratory testing largely relied on third-party      centers, but concerns remain about quality control and accuracy.

• Over half of physicians reported having multidisciplinary      teams (MDTs) and referral systems for MS/NMOSD, yet gaps      in specialized care persist.

Treatment availability:

• Nearly half of hospitals stocked disease-modifying      therapies (DMTs) for MS.

• For NMOSD, traditional immunosuppressants remained      the primary treatment, with <1% of hospitals offering NMOSD-specific      antibody therapies.

• Professor Xu noted that while cognitive impairment and brain      atrophy in MS/NMOSD patients are increasingly recognized, clinical      attention and intervention remain inadequate.

02. Patient Survey Findings

The second section examines patient experiences:

• Misdiagnosis rates remain high, affecting ~40% of      patients.

• Although cognitive screening is now widespread, standardized      treatment and drug accessibility need improvement.

• ~2/3 of patients required cross-province referrals,      highlighting the unique challenges of rare disease care.

Disease burden extends beyond medical costs:

• ~1/3 of patients faced job loss or disability due      to their condition.

• Quality of life significantly declined in daily      activities, mobility, and emotional well-being.

Conclusion & Next Steps

The MS/NMOSD Social Survey White Paper provides a holistic view of China’s diagnostic conditions, treatment perceptions, and patient lived experiences, while exposing critical issues like healthcare resource shortages and poor drug accessibility.

To address these gaps:

• The China Alliance for Rare Diseases established      the MS/NMOSD Base® platform, which had tracked >6,800      patients as of November 2023.

• Guided by the National Rare Diseases Quality Control      Center, the Alliance launched the MS/NMOSD Center Development Project in      2023 to:

• Strengthen single-disease quality management systems.

• Promote early standardized care and tiered       collaborative management for MS/NMOSD.