【交流】Comment in Lancet; then letters in BMJ & Lancet
发布于 2010-03-01 · 浏览 1.1 万 · IP 美国美国
这个帖子发布于 15 年零 77 天前，其中的信息可能已发生改变或有所发展。
在2/28日第三个国际罕见病日到来之际，我们1月底之前投稿的《中国的罕见疾病及立法进展》(Rare diseases and legislation in China) 的述评 (Comment) 文章已于2月27日在《柳叶刀》杂志刊发 (
http://www.thelancet.com/journals/lancet/article/PIIS0140673610602401
/fulltext?rss=yes)。估计这也是编辑的考虑，正好赶上今年的罕见病日。这个小 Comment 是建立在导师让写一篇《美国孤儿药法案及其对新药研发的影响》的中文综述基础上的。——但是 Comment 究竟该如何定位，俺心里还真是没谱，不过比不上 Research Article 是铁板钉钉的。:) :(
文章（见下）介绍了国内报道较多的罕见病种类，2010年罕见病宣传月活动，瓷娃娃关怀协会及其活动，以及由全国人大代表联名提议的《罕见疾病防治法》的立法进展情况。
当前国内正在开展罕见病宣传月活动，祝愿该活动顺利、成功！祝愿社会及政府部门对罕见病患者的关注不断提高，《罕见疾病防治法》尽快获得通过。
Wang JB, Guo JJ, Yang L, Zhang YD, Sun ZQ, Zhang YJ. Rare diseases and legislation in China. Lancet 2010;375:708-9.
Rare diseases and legislation in China
Public awareness of rare diseases is increasing in China. People with rare diseases and their families, patients’ advocacy groups, health-care professionals, lawyers, and representatives of the People’s Congress are working together to establish a Rare Diseases Prevention and Treatment Law. On the basis of WHO’s definition of a rare disease, at least 10 million people are living with rare diseases in China.1 This estimate seems conservative for a population of more than 1.3 billion in China.
Rare diseases in China include osteogenesis imperfecta, neuromuscular diseases, Fabry’s disease, Gaucher’s disease, phenylketonurias, haemophilia A and B, lymphangioleiomyomatosis, albinism, and acromegaly.2 Unfortunately, Chinese patients with such diseases generally do not have access to appropriate health care, especially orphan medicines. Very few agents used for rare diseases in developed countries have entered the Chinese formulary, and few such drugs are affordable without a supportive policy or health-care insurance. Consequently, many patients are unable to fulfil activities of daily living, and might lose their jobs, become disabled or isolated, and even die prematurely.
Aymé and co-workers3 discussed the role of patients’ advocacy groups—such groups have largely contributed to supporting patients with rare diseases, establishing policies, and addressing patients’ unmet needs. The Chinese organisations for rare disease are also engaged in development and dissemination of information, increasing public awareness, raising funds, and improving patients’ access to health care. These groups include the Home of Babies of the Moon—the China Albinism Association, the Haemophilia Home of China (HHC), the Neuro-Muscular Disease Association of China, the China Organisation of Lymphangioleiomyomatosis (LAM-China), and the China-Dolls Care and Support Association. Some organisations have collaborated nationally and internationally, and the disease-specific groups are planning to form an alliance in China.
The China-Dolls Association was founded in 2007, and is a non-profit, non-governmental organisation for people with osteogenesis imperfecta. The word china has a dual meaning. One is porcelain, signifying that these patients are as fragile as porcelain; the other is the country China, emphasising those with this disease are Chinese citizens, and cannot be ignored and should not be discriminated against.4 The slogan of the organisation is “Bones are brittle, but our love is still tough”. The organisation is most active in bringing public attention to rare diseases in China. On Rare Disease Day, Feb 28, 2009, the association convened a symposium to discuss legislation on rare diseases in China.5 With strong support from the China-Dolls Association and the China Social Welfare Education Foundation (CSWEF), the first national conference of osteogenesis imperfecta patients was held in November, 2009, in Beijing (figure). About 200 patients with this disease and other rare diseases attended the meeting. The meeting covered a range of issues from medical care, education, and employment, to policy and law. During the conference, there were various activities such as patient’s training, a volunteer medical service, focus group meetings, and tours. With the advent of the third Rare Disease Day on Feb 28, 2010, the China Charity Federation’s assistance foundation for rare diseases, together with CSWEF’s China-Dolls Fund for Rare Disorders, is advocating a series of campaigns, called Rare Disease Month, to inform people about and draw special attention to rare diseases.6
The activities of rare disease organisations in China have boosted public and governmental concerns. However, China has no legislation for rare diseases, lagging far behind the USA, the European Union, Australia, Singapore, Japan, South Korea, and Taiwan. There were only two provisions for rare diseases and orphan drugs in the 1999 edition of Chinese drug-registration regulation, and the most recent 2007 edition just provides unchanged policies. One of the provisions deals with special needs for clinical trials for new orphan-drug development; that is, the sponsoring company can reduce the sample size of clinical trials and even apply for trial exemption for orphan drugs. The other provision states that new orphan drugs with substantial clinical advantage might get special new-drug review and approval.7 Unfortunately, Chinese pharmaceutical companies have no such drugs in development.
A Bill of rare diseases is under review by the National People’s Congress (NPC) of China. The Bill and its accompanying proposal were developed with collaboration from patients, advocacy groups, and representatives of the NPC. The proposal describes the burden of rare diseases in China and the difficulties patients face, and suggests solutions. Proposals include: definition of Chinese rare diseases; establishment of reimbursement mechanisms and succour networks for screening, prevention, diagnosis, and treatment of rare diseases; importation of orphan drugs proactively by governmental agencies instead of passively waiting for drug applications from foreign companies; and support and encouragement of new drug research and development from the native pharmaceutical industry.8
China is reforming the national health-care system and health-insurance plans with an initial 3-year (2009–11) budget of about US$124 billion.9 We believe legislation for rare diseases and orphan drugs is also a high priority.10 We hope the proposed Bill is considered seriously and passed by the NPC, so that millions of Chinese people with rare diseases can benefit from health insurance and treatment alternatives with orphan drugs. We look forward to seeing more orphan drugs with promising safety, efficacy, and cost-effectiveness profiles developed by both multinational and local companies under the rare disease law’s protection and stimulation. This situation will be win–win for both the drug industry and patients with rare diseases. As has been said before for rare diseases, “It is now time for action”.11
Jing-Bo Wang, Jeff J Guo, Li Yang, Yan-De Zhang, Zhao-Qi Sun, *Yan-Jun Zhang
Department of Ophthalmology, People’s Liberation Army 309 Hospital, Haidian, Beijing, China (JBW); College of Pharmacy, University of Cincinnati Medical Centre, Cincinnati, OH, USA (JJG, YJZ); Department of Medical Services, Jinan Normal School, Jinan, Shandong, China (LY); Beijing Disabled Persons’ Federation, Fengtai, Beijing, China (YDZ); and School of Physics and Materials Science, Anhui University, Hefei, Anhui, China (ZQS)
zhang2yj@mail.uc.edu
We thank Yi-Ou Wang, a woman with osteogenesis imperfecta who, together with other patients, founded and is president of the China-Dolls Care and Support Association, and who provided us with much valuable information about Chinese rare diseases and the photograph. We thank Shi-Wei Gong, an assistant professor at the College of Pharmacy, Tongji Medical College who also provided us with valuable information about rare diseases in China. ZQS is a representative of the National People’s Congress of China, an active advocate of rare-disease legislation in China, associated with various patients’ activities, and is one of the authors of the proposed Rare Diseases Prevention and Treatment Law of China. The other authors declare that they have no conflicts of interest.
1 Ling H, Liu D. People with rare diseases need immediate concerns: China Charity Federation's succour action for people with rare diseases initiated. China Med Herald 2009; 6(24): 4 (in Chinese).
2 Zhang YJ, Wang JB, Guo JJ. The US Orphan Drug Act and its impacts on drug research and development. Chin J Pharm Econ (in press) (in Chinese).
3 Aymé S, Kole A, Groft S. Empowerment of patients: lessons from the rare diseases community. Lancet 2008; 371: 2048–51.
4 China-Dolls Care and Support Association. About the China-Dolls Care and Support Association. http://www.rarediseaseday.org/2009/country/result?country_id=cn (accessed Jan 22, 2010).
5 China-Dolls Care and Support Association. Seminars on rare diseases legislation. Feb 28, 2009. http://www.rarediseaseday.org/2009/events/show/id/134/country_id/cn (accessed Jan 24, 2010).
6 China Charity Federation. Call for campaigns for 2010 rare disease month. http://www.chinacharity.cn/gyzx/tlk100113.aspx (accessed Jan 24, 2010) (in Chinese).
7 China State Food and Drug Administration. Provisions for drug registration. 2007. http://eng.sfda.gov.cn/cmsweb/webportal/W45649039/A64028429.html (accessed Jan 23, 2010).
8 Sun ZQ. Proposal for expediting the assistance to people with rare diseases. March 10, 2008. http://sunzhaoqi08.blog.sohu.com/ (accessed Jan 24, 2010) (in Chinese).
9 Chen Z. Launch of the health-care reform plan in China. Lancet 2009; 373: 1322-24.
10 The Lancet. Making rare diseases a public-health and research priority. Lancet 2008; 371: 1972.
11 Remuzzi G, Garattini S. Rare diseases: what's next? Lancet 2008; 371: 1978–79.
Figure: First national conference of people with osteogenesis imperfecta and other rare diseases
[Copyright is Yi-Ou Wang]
文章（见下）介绍了国内报道较多的罕见病种类，2010年罕见病宣传月活动，瓷娃娃关怀协会及其活动，以及由全国人大代表联名提议的《罕见疾病防治法》的立法进展情况。
当前国内正在开展罕见病宣传月活动，祝愿该活动顺利、成功！祝愿社会及政府部门对罕见病患者的关注不断提高，《罕见疾病防治法》尽快获得通过。
Wang JB, Guo JJ, Yang L, Zhang YD, Sun ZQ, Zhang YJ. Rare diseases and legislation in China. Lancet 2010;375:708-9.
Rare diseases and legislation in China
Public awareness of rare diseases is increasing in China. People with rare diseases and their families, patients’ advocacy groups, health-care professionals, lawyers, and representatives of the People’s Congress are working together to establish a Rare Diseases Prevention and Treatment Law. On the basis of WHO’s definition of a rare disease, at least 10 million people are living with rare diseases in China.1 This estimate seems conservative for a population of more than 1.3 billion in China.
Rare diseases in China include osteogenesis imperfecta, neuromuscular diseases, Fabry’s disease, Gaucher’s disease, phenylketonurias, haemophilia A and B, lymphangioleiomyomatosis, albinism, and acromegaly.2 Unfortunately, Chinese patients with such diseases generally do not have access to appropriate health care, especially orphan medicines. Very few agents used for rare diseases in developed countries have entered the Chinese formulary, and few such drugs are affordable without a supportive policy or health-care insurance. Consequently, many patients are unable to fulfil activities of daily living, and might lose their jobs, become disabled or isolated, and even die prematurely.
Aymé and co-workers3 discussed the role of patients’ advocacy groups—such groups have largely contributed to supporting patients with rare diseases, establishing policies, and addressing patients’ unmet needs. The Chinese organisations for rare disease are also engaged in development and dissemination of information, increasing public awareness, raising funds, and improving patients’ access to health care. These groups include the Home of Babies of the Moon—the China Albinism Association, the Haemophilia Home of China (HHC), the Neuro-Muscular Disease Association of China, the China Organisation of Lymphangioleiomyomatosis (LAM-China), and the China-Dolls Care and Support Association. Some organisations have collaborated nationally and internationally, and the disease-specific groups are planning to form an alliance in China.
The China-Dolls Association was founded in 2007, and is a non-profit, non-governmental organisation for people with osteogenesis imperfecta. The word china has a dual meaning. One is porcelain, signifying that these patients are as fragile as porcelain; the other is the country China, emphasising those with this disease are Chinese citizens, and cannot be ignored and should not be discriminated against.4 The slogan of the organisation is “Bones are brittle, but our love is still tough”. The organisation is most active in bringing public attention to rare diseases in China. On Rare Disease Day, Feb 28, 2009, the association convened a symposium to discuss legislation on rare diseases in China.5 With strong support from the China-Dolls Association and the China Social Welfare Education Foundation (CSWEF), the first national conference of osteogenesis imperfecta patients was held in November, 2009, in Beijing (figure). About 200 patients with this disease and other rare diseases attended the meeting. The meeting covered a range of issues from medical care, education, and employment, to policy and law. During the conference, there were various activities such as patient’s training, a volunteer medical service, focus group meetings, and tours. With the advent of the third Rare Disease Day on Feb 28, 2010, the China Charity Federation’s assistance foundation for rare diseases, together with CSWEF’s China-Dolls Fund for Rare Disorders, is advocating a series of campaigns, called Rare Disease Month, to inform people about and draw special attention to rare diseases.6
The activities of rare disease organisations in China have boosted public and governmental concerns. However, China has no legislation for rare diseases, lagging far behind the USA, the European Union, Australia, Singapore, Japan, South Korea, and Taiwan. There were only two provisions for rare diseases and orphan drugs in the 1999 edition of Chinese drug-registration regulation, and the most recent 2007 edition just provides unchanged policies. One of the provisions deals with special needs for clinical trials for new orphan-drug development; that is, the sponsoring company can reduce the sample size of clinical trials and even apply for trial exemption for orphan drugs. The other provision states that new orphan drugs with substantial clinical advantage might get special new-drug review and approval.7 Unfortunately, Chinese pharmaceutical companies have no such drugs in development.
A Bill of rare diseases is under review by the National People’s Congress (NPC) of China. The Bill and its accompanying proposal were developed with collaboration from patients, advocacy groups, and representatives of the NPC. The proposal describes the burden of rare diseases in China and the difficulties patients face, and suggests solutions. Proposals include: definition of Chinese rare diseases; establishment of reimbursement mechanisms and succour networks for screening, prevention, diagnosis, and treatment of rare diseases; importation of orphan drugs proactively by governmental agencies instead of passively waiting for drug applications from foreign companies; and support and encouragement of new drug research and development from the native pharmaceutical industry.8
China is reforming the national health-care system and health-insurance plans with an initial 3-year (2009–11) budget of about US$124 billion.9 We believe legislation for rare diseases and orphan drugs is also a high priority.10 We hope the proposed Bill is considered seriously and passed by the NPC, so that millions of Chinese people with rare diseases can benefit from health insurance and treatment alternatives with orphan drugs. We look forward to seeing more orphan drugs with promising safety, efficacy, and cost-effectiveness profiles developed by both multinational and local companies under the rare disease law’s protection and stimulation. This situation will be win–win for both the drug industry and patients with rare diseases. As has been said before for rare diseases, “It is now time for action”.11
Jing-Bo Wang, Jeff J Guo, Li Yang, Yan-De Zhang, Zhao-Qi Sun, *Yan-Jun Zhang
Department of Ophthalmology, People’s Liberation Army 309 Hospital, Haidian, Beijing, China (JBW); College of Pharmacy, University of Cincinnati Medical Centre, Cincinnati, OH, USA (JJG, YJZ); Department of Medical Services, Jinan Normal School, Jinan, Shandong, China (LY); Beijing Disabled Persons’ Federation, Fengtai, Beijing, China (YDZ); and School of Physics and Materials Science, Anhui University, Hefei, Anhui, China (ZQS)
zhang2yj@mail.uc.edu
We thank Yi-Ou Wang, a woman with osteogenesis imperfecta who, together with other patients, founded and is president of the China-Dolls Care and Support Association, and who provided us with much valuable information about Chinese rare diseases and the photograph. We thank Shi-Wei Gong, an assistant professor at the College of Pharmacy, Tongji Medical College who also provided us with valuable information about rare diseases in China. ZQS is a representative of the National People’s Congress of China, an active advocate of rare-disease legislation in China, associated with various patients’ activities, and is one of the authors of the proposed Rare Diseases Prevention and Treatment Law of China. The other authors declare that they have no conflicts of interest.
1 Ling H, Liu D. People with rare diseases need immediate concerns: China Charity Federation's succour action for people with rare diseases initiated. China Med Herald 2009; 6(24): 4 (in Chinese).
2 Zhang YJ, Wang JB, Guo JJ. The US Orphan Drug Act and its impacts on drug research and development. Chin J Pharm Econ (in press) (in Chinese).
3 Aymé S, Kole A, Groft S. Empowerment of patients: lessons from the rare diseases community. Lancet 2008; 371: 2048–51.
4 China-Dolls Care and Support Association. About the China-Dolls Care and Support Association. http://www.rarediseaseday.org/2009/country/result?country_id=cn (accessed Jan 22, 2010).
5 China-Dolls Care and Support Association. Seminars on rare diseases legislation. Feb 28, 2009. http://www.rarediseaseday.org/2009/events/show/id/134/country_id/cn (accessed Jan 24, 2010).
6 China Charity Federation. Call for campaigns for 2010 rare disease month. http://www.chinacharity.cn/gyzx/tlk100113.aspx (accessed Jan 24, 2010) (in Chinese).
7 China State Food and Drug Administration. Provisions for drug registration. 2007. http://eng.sfda.gov.cn/cmsweb/webportal/W45649039/A64028429.html (accessed Jan 23, 2010).
8 Sun ZQ. Proposal for expediting the assistance to people with rare diseases. March 10, 2008. http://sunzhaoqi08.blog.sohu.com/ (accessed Jan 24, 2010) (in Chinese).
9 Chen Z. Launch of the health-care reform plan in China. Lancet 2009; 373: 1322-24.
10 The Lancet. Making rare diseases a public-health and research priority. Lancet 2008; 371: 1972.
11 Remuzzi G, Garattini S. Rare diseases: what's next? Lancet 2008; 371: 1978–79.
Figure: First national conference of people with osteogenesis imperfecta and other rare diseases
[Copyright is Yi-Ou Wang]
最后编辑于 2022-10-09 · 浏览 1.1 万
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