The urgent need to empower rare disease organizations in China: an interview-based study

Orphanet Journal of Rare Diseases

Jincheng Zhou¹  Shu Zhang²  Li Ou³  Jianyong Zhang⁴  Bingzhe Li⁵  Zijuan Lu⁶  Xiangyu Zhang⁷  Xuefeng Li⁸ 

[1] Center for Design and Analysis, Amgen Inc., 91320, Thousand Oaks, CA, USA;Department of Oral Implantology, The Affiliated Stomatology Hospital of Kunming Medical University, 650106, Kunming, People’s Republic of China;Gene Therapy Center, Department of Pediatrics, University of Minnesota, 5-174 MCB, 420 Washington Ave SE, 55455, Minneapolis, MN, USA;Jinhaishiji, 333 Jichanglu, 617000, Panzhihua, Sichuan, People’s Republic of China;School of Electrical and Computer Engineering, Oklahoma State University, 74078, Stillwater, OK, USA;School of Humanities, Tongji University, 200092, Shanghai, People’s Republic of China;School of Statistics, University of Minnesota, 55455, Minneapolis, MN, USA;Shenzhen Luohu People’s Hospital, The Third Affiliated Hospital of Shenzhen University, 518001, Shenzhen, People’s Republic of China;Key Laboratory of Regenerative Biology, Guangdong Provincial Key Laboratory of Stem Cell and Regenerative Medicine, South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, 510530, Guangzhou, People’s Republic of China;The Sixth Affiliated Hospital of Guangzhou Medical University, Qingyuan People’s Hospital; State Key Laboratory of Respiratory Disease, Sino-French Hoffmann Institute, School of Basic Medical Sciences, Guangzhou Medical University, 511436, Guangzhou, People’s Republic of China;

关键词: Rare disease;    Patient organizations;    Questionnaire;    China;   

DOI  :  10.1186/s13023-020-01568-5

来源: Springer

【 摘 要 】

BackgroundEach rare disease only affects a small number of population. However, a total of 7000 rare diseases may affect 10% of the population. Due to the severity and lack of rare disease awareness, rare disease represents a huge challenge for the healthcare system. In Western countries, patient organizations have been playing an integral role in raising awareness, advocating legislation, and supporting drug development. This study aims to assess the unmet needs of rare disease patient organizations in China, and identify their unmet needs, providing essential information for the government and legislators.ResultsA total of 28 individuals representing 28 patient organizations in China were interviewed. Most organizations do not have official registration, employees, written standard operation protocol, or reliable financial resources. Misdiagnosis or delayed diagnosis is common, and treatment is often lacking. Due to the lack of financial resources, no organizations have been able to sponsor academic research, unlike their counterparts in Western countries. As to challenges, 71.4% of interviewees listed lack of rare disease awareness among the general public, while 67.9% selected lack of financial resources. Further, only 7.3% of these organizations received support from the government, and 28.6% received support from the general public. As to recommendations to the government, 82.1% of interviewees selected special insurance programs for rare diseases because rare diseases have been generally excluded from the national medical insurance programs. In addition, 78.6% of interviewees recommended to stimulate rare disease research, 75% recommended to import orphan drugs, and 71.4% recommended legislation of an orphan drug act, highlighting the urgent need of therapies.ConclusionsDue to lack of support and rare disease awareness, patient organizations in China are still in the early phase. To empower these patient organizations, the interviewees’ recommendations, including legislating orphan drug act and releasing official definition of rare diseases, should be considered by the government and legislators.

【 授权许可】

CC BY