Community-boosted neurofibromatosis research in China

The number of patients with neurofibromatosis type 1 in China is estimated to be more than four times the number in the USA. Most patients are of low socioeconomical status because of the disfiguration and functional impairments caused by the disease. Due to its low prevalence, lack of awareness persists among the general public and health-care professionals. Much remains to be done to ensure early diagnosis, proper management and treatment, and prevention of complications in people with neurofibromatosis type 1. While there are more than 60 neurofibromatosis clinics in the USA, medical care for neurofibromatosis in China is limited, and is mostly concentrated in large metropolitan areas, such as Shanghai and Beijing. This scarcity leads to great difficulties and barriers to access for patients with neurofibromatosis type 1, who mainly live in remote rural areas and do not usually have the means to access clinical care. Additionally, substantial heterogeneity exists in the management of neurofibromatosis type 1. Clinical surveillance and symptomatic treatment are mainly given without a comprehensive evaluation, follow-up planning, or education of patients about their condition. In the past 5 years, patients with neurofibromatosis type 1 in China have started to connect through the widespread use of instant messaging apps. They have established an online virtual community for people with neurofibromatosis type 1 and their relatives, to offer mutual help to those without access to medical care. As the number of patients involved kept growing, China's first non-governmental organisation for the support of people with neurofibromatosis type 1, the Neurofibromatosis Shenzhen Care Center, was established in 2019. The organising committee are patients with neurofibromatosis type 1 or their relatives, who are highly motivated to serve their community. Their aim is to increase medical access by establishing connections with the main neurofibromatosis centres in China and to promote clinical and biomedical research into the condition. Over the past 2 years, more than 10 000 patients have joined the community either virtually or physically. Together with health-care professionals and some pharmaceutical companies, clinical trials of selumetinib and several 1.1-class innovative drugs (ie, new drugs that are not approved for clinical use worldwide but are supported by the Chinese government) have started in patients with neurofibromatosis type 1.1National Multi-Center Treatment Collaboration Group For Neurofibromatosis TypeNational Multi-Center Research Platform For Plastic and Reconstructive SurgeryExpert consensus on diagnosis and management of neurofibromatosis type 1 (2021 edition).Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi. 2021; 35 (in Chinese).: 1384-1395Google Scholar The community has held academic seminars that led to the publication of the first expert consensus to standardise evaluations, management, surveillance, patients’ education, and genetic consultations of people with neurofibromatosis-1 in China.1National Multi-Center Treatment Collaboration Group For Neurofibromatosis TypeNational Multi-Center Research Platform For Plastic and Reconstructive SurgeryExpert consensus on diagnosis and management of neurofibromatosis type 1 (2021 edition).Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi. 2021; 35 (in Chinese).: 1384-1395Google Scholar Through charity donations, a foundation has been established to support research and scientific education related to neurofibromatosis type 1, and has subsequently supported investigations of novel therapies (eg, gene therapy and CAR T-cell therapy) with the help of scientists from the Chinese Academy of Sciences, the Chinese Academy of Medical Sciences, and other institutions. Immortalised neurofibromatosis cell lines, murine models, and data collections based on samples from Chinese patients with neurofibromatosis type 1 have been established to accelerate biomedical research.2Wang Z Li Q Ren J Gu Y Wang W Establishment and related methods for a neurofibroma cell line, patent CN112143702A 2020-04-22.https://d.wanfangdata.com.cn/patent/ChJQYXRlbnROZXdTMjAyMjAzMjMSEENOMjAyMDEwMzIyNDA0LjgaCGhjbHJ5ZjNpDate accessed: December 29, 2020Google Scholar, 3Wang Z Li Q Wei C Wang W Gu Y A method for constructing NF1 gene knockout animal model, patent CN113957096A 2021-10-26.https://d.wanfangdata.com.cn/patent/ChJQYXRlbnROZXdTMjAyMjAzMjMSEENOMjAyMTExMjQ3NTEwLjUaCG1reDZzcDd2Date accessed: January 21, 2022Google Scholar These endeavours are giving hope to the neurofibromatosis type 1 community at present and for a better future. The dramatic change initiated by the neurofibromatosis type 1 community in China could act as an exemplar for patients with neurofibromatosis in low and middle-income countries worldwide, and for other patients with rare and neglected diseases. The accumulation of efforts from individual patients can make a difference. We declare no competing interests. The authors are supported by grants from the National Natural Science Foundation of China (82102344; 82172228). Z-cW and H-bL are joint first authors and contributed equally.