FENG Junchao, LI Shunping, CHEN Jingdan, XIE Shiyao, ZHANG Yue, JIANG Shijing. Current Status of Studies Measuring Health State Utility for 121 Rare Diseases[J]. Journal of Rare Diseases, 2023, 2(3): 455-462. DOI: 10.12376/j.issn.2097-0501.2023.03.019
Citation: FENG Junchao, LI Shunping, CHEN Jingdan, XIE Shiyao, ZHANG Yue, JIANG Shijing. Current Status of Studies Measuring Health State Utility for 121 Rare Diseases[J]. Journal of Rare Diseases, 2023, 2(3): 455-462. DOI: 10.12376/j.issn.2097-0501.2023.03.019

Current Status of Studies Measuring Health State Utility for 121 Rare Diseases

Funds: 

National Natural Science Foundation of China 72174110

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  • Corresponding author:

    LI Shunping, E-mail: lishunping@sdu.edu.cn

  • Received Date: April 11, 2023
  • Accepted Date: May 15, 2023
  • Available Online: September 08, 2023
2097-0501/©2023 Editorial Office of Journal of Rare Diseases This is an open access article under the CC BY-NC-ND license (https://creativecommons.org/licenses/by-nc-nd/4.0/)
  • Pharmacoeconomic evaluation is the essential supporting information for the inclusion of rare disease drugs into medical insurance in China. The accurate measurement of the health state utility of rare diseas is of practical significance to the development of rare disease pharmacoeconomic evaluation. Based on the review of pharmacoeconomic evaluation requirements for rare diseases in some countries/regions, we systematically retrieved the published studies on the measurement of health state utility for 121 rare diseases in China and other countries and regions. We identified 17 591 papers in the initial review, and later selected 230 after screening. We also made a comprehensive analysis of the quality of literature, evaluation content and use of tools for measuring health state utility in rare diseases in China. Finally, we analyzed the challenges in measurement in terms of population, instruments use, and application of results and made recommendations based on analysis, hoping to provide reference for the development of rare disease health state utility measurement studies in China.

  • [1]
    Richter T, Nestler-Parr S, Babela R, et al. Rare disease terminology and definitions-a systematic global review: report of the ISPOR Rare Disease Special Interest Group[J]. Value Health, 2015, 18(6): 906-914. doi: 10.1016/j.jval.2015.05.008
    [2]
    国家卫生健康委员会. 关于公布第一批罕见病目录的通知[EB/OL]. (2018-06-08)[2023-03-20]. http://www.nhc.gov.cn/yzygj/s7659/201806/393a9a37f39c4b458d6e830f40a4bb99.shtml.
    [3]
    国家医疗保障局. 国家医疗保障局关于公布《2022年国家基本医疗保险、工伤保险和生育保险药品目录调整工作方案》及相关文件的公告[EB/OL]. (2022-06-29). [2022-10-30]. http://www.nhsa.gov.cn/art/2022/6/29/art_109_8342.html.
    [4]
    刘国恩. 中国药物经济学评价指南[M]. 北京: 中国市场出版社, 2020.
    [5]
    胡嘉浩, 康琦, 朱琳, 等. 罕见病用药经济学评价的挑战与中国对策思考[J]. 世界临床药物, 2022, 43(2): 109-114. doi: 10.13683/j.wph.2022.02.001
    [6]
    Ravangard R, Rezaee M, Keshavarz K, et al. Cost-effectiveness and cost-utility of cinnovex versus recigen in patients with relapsing-remitting multiple sclerosis in Iran[J]. Shiraz E Medical Journal, 2018. doi: 10.5812/semj.67363.
    [7]
    Van Mastrigt GA, Evers SM, Heerings M, et al. An economic evaluation attached to a single-centre, parallel group, unmasked, randomized controlled trial of a 3-day intensive social cognitive treatment(can do treatment) in patients with relapsing remitting multiple sclerosis and low disability[J]. J Med Econ, 2019, 22(10): 967-980. doi: 10.1080/13696998.2019.1609300
    [8]
    He A, Spelman T, Manouchehrinia A, et al. Association between early treatment of multiple sclerosis and patient-reported outcomes: a nationwide observational cohort study[J]. J Neurol Neurosurg Psychiatry, 2023, 94(4): 284-289. doi: 10.1136/jnnp-2022-330169
    [9]
    Bloem LT, Vreman RA, Peeters NWL, et al. Associations between uncertainties identified by the European Medicines Agency and national decision making on reimbursement by HTA agencies[J]. Clin Transl Sci, 2021, 14(4): 1566-1577. doi: 10.1111/cts.13027
    [10]
    Nicod E, Annemans L, Bucsics A, et al. HTA programme response to the challenges of dealing with orphan medicinal products: process evaluation in selected European countries[J]. Health Policy, 2019, 123(2): 140-151. doi: 10.1016/j.healthpol.2017.03.009
    [11]
    关轶茹, 相维, 张方. 澳大利亚救生药物计划及对我国罕见病医疗救助制度的启示[J]. 中国卫生政策研究, 2015, 8(8): 51-55. doi: 10.3969/j.issn.1674-2982.2015.08.010
    [12]
    Malinowski KP, Kawalec P, Trabka W, et al. Reimbursement of orphan drugs in europe in relation to the type of authorization by the european medicines agency and the decision making based on health technology assessment[J]. Front Pharmacol, 2018, 9: 1263. doi: 10.3389/fphar.2018.01263
    [13]
    Song P, Gao J, Inagaki Y, et al. Rare diseases, orphan drugs, and their regulation in Asia: current status and future perspectives[J]. Intractable Rare Dis Res, 2012, 1(1): 3-9.
    [14]
    何山, 高仕奇, 何欣悦, 等. 中国罕见病领域新进展(2020-2021)[J]. 协和医学杂志, 2022, 13(1): 39-45. https://www.cnki.com.cn/Article/CJFDTOTAL-XHYX202201007.htm
    [15]
    曾宪涛, 刘慧, 陈曦, 等. Meta分析系列之四: 观察性研究的质量评价工具[J]. 中国循证心血管医学杂志, 2012, 4(4): 297-299. doi: 10.3969/j.1674-4055.2012.04.004
    [16]
    Zhou T, Guan H, Wang L, et al. Health-related quality of life in patients with different diseases measured with the eq-5d-5l: a systematic review[J]. Front Public Health, 2021, 9: 675523. doi: 10.3389/fpubh.2021.675523
    [17]
    张浩, 董洋洋, 马萍, 等. 中国儿童青少年维生素D营养状况的Meta分析[J]. 中国循证医学杂志, 2021, 21(3): 284-289. https://www.cnki.com.cn/Article/CJFDTOTAL-ZZXZ202103006.htm
    [18]
    Djulbegovic B, Goldsmith G, Vaughn D, et al. Compari-son of the quality of life between HIV-positive haemophilia patients and HIV-negative haemophilia patients[J]. Haemophilia, 1996, 2(3): 166-172.
    [19]
    Forsyth AL, Witkop M, Lambing A, et al. Associations of quality of life, pain, and self-reported arthritis with age, employment, bleed rate, and utilization of hemophilia treatment center and health care provider services: results in adults with hemophilia in the HERO study[J]. Patient Prefer Adherence, 2015, 9: 1549-1560.
    [20]
    Rodriguez-Santana I, Dasmahapatra P, Burke T, et al. Differential humanistic and economic burden of mild, moderate and severe haemophilia in european adults: a regression analysis of the CHESS Ⅱ study[J]. Orphanet J Rare Dis, 2022, 17(1): 148. doi: 10.1186/s13023-022-02300-1
    [21]
    Burke T, Asghar S, O'Hara J, et al. Clinical, humanistic, and economic burden of severe hemophilia B in the United States: results from the CHESS US and CHESS US+ population surveys[J]. Orphanet J Rare Dis, 2021, 16(1): 143. doi: 10.1186/s13023-021-01774-9
    [22]
    Burke T, Rodriguez-Santana I, Chowdary P, et al. Humanistic burden of problem joints for children and adults with haemophilia[J]. Haemophilia, 2023, 29(2): 608-618. doi: 10.1111/hae.14731
    [23]
    Osooli M, Steen Carlsson K, Baghaei F, et al. The association between health utility and joint status among people with severe haemophilia A: findings from the KAPPA register[J]. Haemophilia, 2017, 23(3): e180-e187. doi: 10.1111/hae.13231
    [24]
    Wei QQ, Hou Y, Chen Y, et al. Health-related quality of life in amyotrophic lateral sclerosis using EQ-5D-5L[J]. Health Qual Life Outcomes, 2021, 19(1): 181. doi: 10.1186/s12955-021-01822-9
    [25]
    朱琳, 马静, 李晓丹, 等. 我国低磷性佝偻病患者生存状况调查分析[J]. 中国卫生经济, 2022, 41(6): 67-71. https://www.cnki.com.cn/Article/CJFDTOTAL-WEIJ202206018.htm
    [26]
    Xiao Y, Zhang L, Wei Q, et al. Health-related quality of life in patients with multiple system atrophy using the EQ-5D-5L[J]. Brain Behav, 2022, 12(10): e2774. doi: 10.1002/brb3.2774
    [27]
    Xu RH, Zhu L, Sun R, et al. Investigating the psycho-metric properties of the EQ-5D-Y-3L, EQ-5D-Y-5L, CHU-9D, and PedsQL in children and adolescents with osteogenesis imperfecta[J]. Eur J Pediatr, 2022, 181(12): 4049-4058. doi: 10.1007/s00431-022-04626-1
    [28]
    Xu RH, Lu M, Zhang S, et al. EQ-5D and SF-6D health utility scores in patients with spinal and bulbar muscular atrophy[J]. Eur J Health Econ, 2022. doi: 10.1007/s10198-022-0155/1-w.
    [29]
    Xu RH, Dong D, Luo N, et al. Evaluating the psychometric properties of the EQ-5D-5L and SF-6D among patients with haemophilia[J]. Eur J Health Econ, 2021, 22(4): 547-557. doi: 10.1007/s10198-021-01273-5
    [30]
    Niu J, Ning L, Zhang Q, et al. Health-related quality of life of patients with haemophilia: a cross-sectional survey in the Northeast of China[J]. BMJ Open, 2022, 12(2): e056668. doi: 10.1136/bmjopen-2021-056668
    [31]
    Xu RH, Dong D, Luo N, et al. Mapping the Haem-A-QoL to the EQ-5D-5L in patients with hemophilia[J]. Qual Life Res, 2022, 31(5): 1533-1544. doi: 10.1007/s11136-021-03051-5
    [32]
    Zhang W, Xie S, Xue F, et al. Health-related quality of life among adults with haemophilia in China: a comparison with age-matched general population[J]. Haemophilia, 2022, 28(5): 776-783. doi: 10.1111/hae.14615
    [33]
    Beusterien K, Leigh N, Jackson C, et al. Integrating preferences into health status assessment for amyotrophic lateral sclerosis: the ALS utility index[J]. Amyotroph Lateral Scler Other Motor Neuron Disord, 2005, 6(3): 169-176. doi: 10.1080/14660820410021339
    [34]
    Green C, Goodwin E, Hawton A. 'Naming and Framing': the impact of labeling on health state values for multiple sclerosis[J]. Med Decis Making, 2017, 37(6): 703-714. doi: 10.1177/0272989X17705637
    [35]
    Goodwin E, Green C. A quality-adjusted life-year measure for multiple sclerosis: developing a patient-reported health state classification system for a multiple sclerosis-specific preference-based measure[J]. Value Health, 2015, 18(8): 1016-1024. doi: 10.1016/j.jval.2015.07.002
    [36]
    Goodwin E, Hawton A, Green C. Using the fatigue severity scale to inform healthcare decision-making in multiple sclerosis: mapping to three quality-adjusted life-year measures (EQ-5D-3L, SF-6D, MSIS-8D)[J]. Health Qual Life Outcomes, 2019, 17(1): 136. doi: 10.1186/s12955-019-1205-y
    [37]
    Benjamin K, Vernon MK, Patrick DL, et al. Patient-reported outcome and observer-reported outcome assessment in rare disease clinical trials: an ISPOR COA emerging good practices task force report[J]. Value Health, 2017, 20(7): 838-855. doi: 10.1016/j.jval.2017.05.015
    [38]
    Slade A, Isa F, Kyte D, et al. Patient reported outcome measures in rare diseases: a narrative review[J]. Orphanet J Rare Dis, 2018, 13(1): 61. doi: 10.1186/s13023-018-0810-x
    [39]
    Basch E, Bennett AV. Patient-reported outcomes in clinical trials of rare diseases[J]. J Gen Intern Med, 2014, 29 Suppl3(Suppl 3): S801-S803.
    [40]
    Gao Q, Wang S, Ren J, et al. Measuring parent proxy-reported quality of life of 11 rare diseases in children in Zhejiang, China[J]. Health Qual Life Outcomes, 2020, 18(1): 372. doi: 10.1186/s12955-020-01572-0
    [41]
    李顺平, 吴晶, 陈钢. 多属性健康效用量表研制与应用述评[J]. 中国卫生经济, 2020, 39(10): 5-8. https://www.cnki.com.cn/Article/CJFDTOTAL-WEIJ202010003.htm
    [42]
    Richardson J, Khan M A, Iezzi A, et al. Comparing and explaining differences in the magnitude, content, and sensitivity of utilities predicted by the EQ-5D, SF-6D, HUI 3, 15D, QWB, and AQoL-8D multiattri-bute utility instruments[J]. Med Decis Making, 2015, 35(3): 276-291. doi: 10.1177/0272989X14543107
    [43]
    Finch AP, Brazier JE, Mukuria C. What is the evidence for the performance of generic preference-based measures? A systematic overview of reviews[J]. Eur J Health Econ, 2018, 19(4): 557-570. doi: 10.1007/s10198-017-0902-x
    [44]
    Efthymiadou O, Mossman J, Kanavos P. Health related quality of life aspects not captured by EQ-5D-5L: results from an international survey of patients[J]. Health Policy, 2019, 123(2): 159-165. doi: 10.1016/j.healthpol.2018.12.003
    [45]
    Meregaglia M, Whittal A, Nicod E, et al. 'Mapping' health state utility values from non-preference-based measures: a systematic literature review in rare diseases[J]. Pharmacoeconomics, 2020, 38(6): 557-574. doi: 10.1007/s40273-020-00897-4
    [46]
    宣建伟, 孙巧. 中国罕见病药物经济学评估适用模型与支付阈值参考标准探讨[J]. 国际药学研究杂志, 2019, 46(9): 659-665. https://www.cnki.com.cn/Article/CJFDTOTAL-GWYZ201909004.htm
    [47]
    周静, 杨男, 施李正, 等. 罕见病用药医保准入价值评估准则研究的定性系统评价[J]. 中国循证医学杂志, 2019, 19(11): 1292-1299. https://www.cnki.com.cn/Article/CJFDTOTAL-ZZXZ201911007.htm
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