第十二届北京罕见病学术大会暨2024京津冀罕见病学术大会征文(031)

CY Chen¹， R Wei¹， XL Zhang¹， Y Zhou^1，2*， N Yu³， Y Yuan⁴， J Ding⁵

¹Department of Pharmacy， Peking University First Hospital

²Drug Clinical Trial Institution， Peking University First Hospital

³Department of Medical Service， Peking University First Hospital

⁴Department of Neurology， Peking University First Hospital

⁵Children＇s Medical Center， Peking University First Hospital

Objectives: Rare disease is a general term for various diseases with very low incidence. Recently， China has accelerated the exploration of the "Chinese mode" of rare disease diagnosis and treatment by a series of initiatives. To comply with the national policy trend of rare diseases， the Department of Pharmacy in Peking University First Hospital has established a multidisciplinary， whole-process mode for drug management of rare diseases， including drug access， rational drug use management， pharmaceutical services and scientific research based on clinical needs.

Methods: During the drug access stage， in addition to the routine drug introduction process， Direct to Patient (DTP) drug supply and urgent drug purchase channels are adopted to ensure the accessibility of drugs for rare diseases to the maximum extent. For the management of rational drug use， our hospital has established a comprehensive medical management platform for multi-department cooperation， including personnels from medical services department， pharmacy department， medical insurance department， information center， clinical department experts and so on. For pharmaceutical services， as an important member of the medical teams， clinical pharmacists participate in the multidisciplinary medical consultations of rare diseases and Alport syndrome MDT， exploring the interprofessional collaborated， "one-stop" management of rare disease diagnosis and treatment. Meanwhile， pharmacists conducted a series of scientific studies in collaboration with neurologists and pediatricians.

Results: Clinical pharmacists have completed about 200 drug consultations for rare diseases and participated in drafting an expert consensus. Relying on two national projects， we participated in the development of 13 orphan drugs. We also completed 9 meta-analyses， 2 population pharmacokinetic researches and 3 real-world studies of rare diseases， providing recommendations for clinical treatments. Besides， we constructed an orphan drug website in cooperation with pediatricians.

Conclusions: Multidisciplinary drug management for rare diseases may enhance the availability of rare disease drugs， improve the quality of pharmaceutical care and contribute to the construction and development of the diagnosis and treatment system of rare diseases in our hospital.

Keywords: Rare disease; Interprofessional collaboration; Rational drug use; Pharmaceutical services; Clinical pharmacists