Improving Insurance Protection for Rare Diseases: Economic Burden and Policy Effects — Simulation of People With Pompe Disease in China

Document Type : Original Article

Authors

1 School of Clinical Medicine, University of Cambridge, Cambridge, UK

2 Jockey Club School of Public Health and Primary Care, Chinese University of Hong Kong, Hong Kong, China

3 Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China

Abstract

Background 
The economic burden of Pompe disease (PD) is under-researched. This study aimed to fill this gap and provide evidence-based suggestions for policy improvement based on policy simulation.

Methods 
Data were derived from a nationally based cross-sectional survey on rare diseases in early 2018. Answers from 92 PD patients were used for data analysis and simulation. Catastrophic health expenditure (CHE) and impoverishment due to illness (IDI) were adopted to measure PD patients’ economic burden. Two typical reimbursement patterns, a dosage-based model and a cost-based model, in China were simulated.

Results 
Twenty-four pediatric and 68 adult PD patients were investigated. Families with pediatric PD patients on average had lower annual household incomes than families with adult PD patients (RMB 37 890 vs. RMB 66 120). The direct medical expense and out-of-pocket expenses were almost double for pediatric patients compared with adult patients (RMB 120 050 vs. RMB 66 350; RMB 112 710 vs. RMB 57 940, respectively). The direct non-medical expense for patients was almost six times the expense of adult patients (RMB 73 790 vs. RMB 13 080, respectively). About 88.24% of families with pediatric PD patients and 67.21% of families with adult PD patients suffered from CHE. Around 84.21% of families with pediatric PD patients and 45.90% of families with adult PD patients were forced to live in poverty due to illness. The simulation indicated that, although the two current reimbursement schemes helped reduce CHE, they almost had no effect on reducing IDI; the dosage-based model was more sensitive to changes in policy parameters.

Conclusion 
Our study highlighted the alarmingly high disease burden faced by PD patients with first-hand patientreported evidence. Our series of simulations could be a good reference for China and other countries to improve their reimbursement policy regarding PD.

Keywords


  1. Kanters TA, Hagemans ML, van der Beek NA, Rutten FF, van der Ploeg AT, Hakkaart L. Burden of illness of Pompe disease in patients only receiving supportive care. J Inherit Metab Dis. 2011;34(5):1045-1052. doi:1007/s10545-011-9320-x
  2. Sarah B, Giovanna B, Emanuela K, Nadi N, Josè V, Alberto P. Clinical efficacy of the enzyme replacement therapy in patients with late-onset Pompe disease: a systematic review and a meta-analysis. J Neurol. 2022;269(2):733-741. doi:1007/s00415-021-10526-5
  3. Dasouki M, Jawdat O, Almadhoun O, et al. Pompe disease: literature review and case series. Neurol Clin. 2014;32(3):751-776. doi:1016/j.ncl.2014.04.010
  4. Schoser B, Bilder DA, Dimmock D, Gupta D, James ES, Prasad S. The humanistic burden of Pompe disease: are there still unmet needs? A systematic review. BMC Neurol. 2017;17(1):202. doi:1186/s12883-017-0983-2
  5. van der Ploeg AT, Reuser AJ. Pompe's disease. Lancet. 2008;372(9646):1342-1353. doi:1016/s0140-6736(08)61555-x
  6. Laforêt P, Nicolino M, Eymard PB, et al. Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. Neurology. 2000;55(8):1122-1128. doi:1212/wnl.55.8.1122
  7. Hagemans ML, Winkel LP, Hop WC, Reuser AJ, Van Doorn PA, Van der Ploeg AT. Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology. 2005;64(12):2139-2141. doi:1212/01.wnl.0000165979.46537.56
  8. Chen S, Wang J, Zhu J, Chung RY, Dong D. Quality of life and its contributors among adults with late-onset Pompe disease in China. Orphanet J Rare Dis. 2021;16(1):199. doi:1186/s13023-021-01836-y
  9. Richardson JS, Kemper AR, Grosse SD, et al. Health and economic outcomes of newborn screening for infantile-onset Pompe disease. Genet Med. 2021;23(4):758-766. doi:1038/s41436-020-01038-0
  10. Pascual SI. Phenotype variations in early onset Pompe disease: diagnosis and treatment results with Myozyme®. In: Espinós C, Felipo V, Palau F, eds. Inherited Neuromuscular Diseases: Translation from Pathomechanisms to Therapies. Vol 652. Dordrecht: Springer; 2009. p. 39-46. doi:1007/978-90-481-2813-6_4
  11. Times F. Chinese rare disease patients ‘waiting for death’. 2018. https://www.ft.com/content/7d493854-0054-11e8-9e12-af73e8db3c71. Accessed February 9, 2019.
  12. Lim SS, Allen K, Bhutta ZA, et al. Measuring the health-related Sustainable Development Goals in 188 countries: a baseline analysis from the Global Burden of Disease Study 2015. Lancet. 2016;388(10053):1813-1850. doi:1016/s0140-6736(16)31467-2
  13. Guo Y, Shibuya K, Cheng G, Rao K, Lee L, Tang S. Tracking China's health reform. Lancet. 2010;375(9720):1056-1058. doi:1016/s0140-6736(10)60397-2
  14. Weekly S. High price "orphan medicine", life-saving or life-taking. 2017. http://www.infzm.com/content/127291. Accessed February 9, 2019.
  15. Koto Y, Sakai N, Lee Y, et al. Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: a nationwide survey in Japan. Mol Genet Metab. 2021;133(3):277-288. doi:1016/j.ymgme.2021.05.004
  16. Vanherpe P, Fieuws S, D'Hondt A, et al. Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures. Orphanet J Rare Dis. 2020;15(1):83. doi:1186/s13023-020-01353-4
  17. Jastrzębska A, Potulska-Chromik A, Łusakowska A, et al. Screening for late-onset Pompe disease in Poland. Acta Neurol Scand. 2019;140(4):239-243. doi:1111/ane.13133
  18. Gong S, Li D, Dong D. How do patients and doctors perceive medical services for rare diseases differently in China? Insights from two national surveys. Int J Environ Res Public Health. 2020;17(16):5961. doi:3390/ijerph17165961
  19. Yan X, He S, Dong D. Determining how far an adult rare disease patient needs to travel for a definitive diagnosis: a cross-sectional examination of the 2018 national rare disease survey in China. Int J Environ Res Public Health. 2020;17(5):1757. doi:3390/ijerph17051757
  20. Visser PS, Krosnick JA, Marquette J, Curtin M. Mail surveys for election forecasting? An evaluation of the Columbus Dispatch poll. Public Opin Q. 1996;60(2):181-227. doi:1086/297748
  21. Kaplowitz MD, Hadlock TD, Levine R. A comparison of Web and mail survey response rates. Public Opin Q. 2004;68(1):94-101. doi:1093/poq/nfh006
  22. Wagstaff A, Flores G, Smitz MF, Hsu J, Chepynoga K, Eozenou P. Progress on impoverishing health spending in 122 countries: a retrospective observational study. Lancet Glob Health. 2018;6(2):e180-e192. doi:1016/s2214-109x(17)30486-2
  23. Heeley E, Anderson CS, Huang Y, et al. Role of health insurance in averting economic hardship in families after acute stroke in China. Stroke. 2009;40(6):2149-2156. doi:1161/strokeaha.108.540054
  24. McIntyre D, Thiede M, Dahlgren G, Whitehead M. What are the economic consequences for households of illness and of paying for health care in low- and middle-income country contexts? Soc Sci Med. 2006;62(4):858-865. doi:1016/j.socscimed.2005.07.001
  25. Ranson MK. Reduction of catastrophic health care expenditures by a community-based health insurance scheme in Gujarat, India: current experiences and challenges. Bull World Health Organ. 2002;80(8):613-621.
  26. Limwattananon S, Tangcharoensathien V, Prakongsai P. Catastrophic and poverty impacts of health payments: results from national household surveys in Thailand. Bull World Health Organ. 2007;85(8):600-606. doi:2471/blt.06.033720
  27. Xu K, Evans DB, Kawabata K, Zeramdini R, Klavus J, Murray CJ. Household catastrophic health expenditure: a multicountry analysis. Lancet. 2003;362(9378):111-117. doi:1016/s0140-6736(03)13861-5
  28. Yardim MS, Cilingiroglu N, Yardim N. Catastrophic health expenditure and impoverishment in Turkey. Health Policy. 2010;94(1):26-33. doi:1016/j.healthpol.2009.08.006
  29. Chen S, Zhang H, Pan Y, et al. Are free anti-tuberculosis drugs enough? An empirical study from three cities in China. Infect Dis Poverty. 2015;4:47. doi:1186/s40249-015-0080-y
  30. Xiang L, Pan Y, Hou S, et al. The impact of the new cooperative medical scheme on financial burden of tuberculosis patients: evidence from six counties in China. Infect Dis Poverty. 2016;5:8. doi:1186/s40249-015-0094-5
  31. Xin XX, Guan XD, Shi LW. Catastrophic expenditure and impoverishment of patients affected by 7 rare diseases in China. Orphanet J Rare Dis. 2016;11(1):74. doi:1186/s13023-016-0454-7
  32. National School of Development. The China Health and Retirement Longitudinal Study. 2019. https://charls.pku.edu.cn/en/About/About_CHARLS.htm. Accessed March 5, 2020.
  33. Davison AC, Hinkley DV. Bootstrap Methods and Their Application. Cambridge University Press; 1997.
  34. R Core Team. R: A Language and Environment for Statistical Computing. 2019. https://www.R-project.org/.
  35. Meng Q, Xu L, Zhang Y, et al. Trends in access to health services and financial protection in China between 2003 and 2011: a cross-sectional study. Lancet. 2012;379(9818):805-814. doi:1016/s0140-6736(12)60278-5
  36. Xiao-xiong X, Xiao-dong G, Lu-wen S. Research on Rare Disease Security Mechanism in China Based on the Affordability Evaluation of 5 Rare Diseases. China Pharmacy. 2014;25(5).
  37. Ni X, Shi T. The challenge and promise of rare disease diagnosis in China. Sci China Life Sci. 2017;60(7):681-685. doi:1007/s11427-017-9100-1
  38. Fu M, Guan X, Wei G, Xin X, Shi L. Medical service utilisation, economic burden and health status of patients with rare diseases in China. J Chin Pharm Sci. 2018;27(5):361-369. doi:5246/jcps.2018.05.037
  39. Rupasinghe B, Gilbane A, Schlegel CR, Walsh K, Degun R. Launching combination therapies in rare diseases: is high cost burden restricting access? Value Health. 2017;20(9):A550. doi:1016/j.jval.2017.08.859
  40. Detiček A, Locatelli I, Kos M. Patient access to medicines for rare diseases in European countries. Value Health. 2018;21(5):553-560. doi:1016/j.jval.2018.01.007
  41. Gallagher JR, McDermott KJ, Risebrough N, Heap KJ, Watch J. A cost-effective enhanced retrospective observational study methodology to capture economic burden evidence in a rare disease using non-tuberculous mycobacteria infection as a model. Value Health. 2015;18(7):A728. doi:1016/j.jval.2015.09.2774
  42. Pearson I, Rothwell B, Olaye A, Knight C. Economic modeling considerations for rare diseases. Value Health. 2018;21(5):515-524. doi:1016/j.jval.2018.02.008
  43. Hughes-Wilson W, Palma A, Schuurman A, Simoens S. Paying for the Orphan Drug System: break or bend? Is it time for a new evaluation system for payers in Europe to take account of new rare disease treatments? Orphanet J Rare Dis. 2012;7:74. doi:1186/1750-1172-7-74
  44. Blankart CR, Stargardt T, Schreyögg J. Availability of and access to orphan drugs: an international comparison of pharmaceutical treatments for pulmonary arterial hypertension, Fabry disease, hereditary angioedema and chronic myeloid leukaemia. Pharmacoeconomics. 2011;29(1):63-82. doi:2165/11539190-000000000-00000
  45. Gammie T, Lu CY, Babar ZU. Access to orphan drugs: a comprehensive review of legislations, regulations and policies in 35 countries. PLoS One. 2015;10(10):e0140002. doi:1371/journal.pone.0140002
  46. Denis A, Mergaert L, Fostier C, Cleemput I, Simoens S. A comparative study of European rare disease and orphan drug markets. Health Policy. 2010;97(2-3):173-179. doi:1016/j.healthpol.2010.05.017
  47. Nestler-Parr S, Korchagina D, Toumi M, et al. Challenges in research and health technology assessment of rare disease technologies: report of the ISPOR rare disease special interest group. Value Health. 2018;21(5):493-500. doi:1016/j.jval.2018.03.004
  48. Czech M, Baran-Kooiker A, Atikeler K, et al. A review of rare disease policies and orphan drug reimbursement systems in 12 Eurasian countries. Front Public Health. 2019;7:416. doi:3389/fpubh.2019.00416
  49. Chien YH, Tsai WH, Chang CL, et al. Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: evidence from real-world experiences. Mol Genet Metab Rep. 2020;23:100591. doi:1016/j.ymgmr.2020.100591
  • Receive Date: 26 April 2021
  • Revise Date: 21 August 2022
  • Accept Date: 28 September 2022
  • First Publish Date: 01 October 2022