Making orphan drugs and services available and accessible for people who live with rare diseases: what has been done? a systematic scoping review

References

• Rodwell C, Aymé S. Rare disease policies to improve care for patients in Europe. Biochim Biophys Acta Mol Basis Dis. 2015;1852(10):2329–2335.
   PubMed Web of Science ®Google Scholar
• Fagnan DE, Yang NN, Mckew JC, et al. Financing translation: analysis of the NCATS rare-diseases portfolio. Sci Transl Med. 2015;7(276):2763.
   Web of Science ®Google Scholar
• Liu BC, He L, He G, et al. A cross-national comparative study of orphan drug policies in the United States, the European Union, and Japan: towards a made-in-China orphan drug policy. J Public Health Policy. 2010;31(4):407.
   PubMed Web of Science ®Google Scholar
• Bagley N, Berger B, Chandra A, et al. The Orphan Drug Act at 35: observations and an outlook for the twenty-first century. Innov. Policy Econ. 2019;19(1):97–137.
   Google Scholar
• Lucas F. Improving market access to rare disease therapies: a worldwide perspective with recommendations to the industry. Medicine Access@ Point of Care2. 2018;2399202618810121.
   Google Scholar
• Chambers JD, Panzar AD, Kim DD, et al. Variation in US private health plans’ coverage of orphan drugs. Am J Manag Care. 2019;25(10):508–512.
   PubMed Web of Science ®Google Scholar
• RobinsonSW BK, Liow C, Liow C, et al. An early examination of access to select orphan drugs treating rare diseases in health insurance exchange plans. J Managed Care Pharm. 2014;20(10):997–1004.
   Google Scholar
• Putkowski S. the national organization for rare disorders (NORD) providing advocacy for people with rare disorders. NASN Sch Nurse. 2010;25(1):38–41.
   PubMedGoogle Scholar
• Yehia F, Segal JB, Anderson GF. Predictors of orphan drug coverage restrictions in medicare, part D. Am J Manag Care. 2020;26(9):e289–e94.
   PubMed Web of Science ®Google Scholar
• Gong S, Wang Y, Pan X, et al. The availability and affordability of orphan drugs for rare diseases in China. Orphanet J Rare Dis. 2016;11(1):1–12.
   PubMedGoogle Scholar
• ChengA XZ, Spargo T, Seoane-Vazquez E. Challenges in orphan drug development and regulatory policy in China. Orphanet J Rare Dis. 2017;12(1):1–8.
   PubMedGoogle Scholar
• Encina G, Castillo-Laborde C, Lecaros JA, et al. Rare diseases in Chile: challenges and recommendations in universal health coverage context. Orphanet J Rare Dis. 2019;14(1):1–8.
   PubMed Web of Science ®Google Scholar
• Cannizzo S, Lorenzoni V, Palla I, et al. Rare diseases under different levels of economic analysis: current activities, challenges and perspectives. RMD Open. 2018;4(1):e000794.
   PubMedGoogle Scholar
• Peters MDJ, Godfrey C, McInerney P, et al. Scoping Reviews (2020 version), in: JBI Manual for Evidence Synthesis, Munn Z, Aromataris E, Editors. JBI. 2020.
   Google Scholar
• Moola S, Munn Z, Tufanaru C, et al. Chapter 7: systematic reviews of etiology and risk in: JBI Manual for Evidence Synthesis. Munn Z, Aromataris E Editors. JBI. 2020.
   Google Scholar
• Lockwood C, Munn Z, Porritt K. Qualitative research synthesis: methodological guidance for systematic reviewers utilizing meta-aggregation. JBI Evid Implement. 2015;13(3):179–187.
   Google Scholar
• Aromataris E, Fernandez R, Godfrey CM, et al. Summarizing systematic reviews: methodological development, conduct and reporting of an umbrella review approach. JBI Evid Implement. 2015;13(3):132–140.
   Google Scholar
• Gulliford M, Figueroa-Munoz J, Morgan M, et al., What does ‘access to health care’ mean? J Health Serv Res Policy. 2002;7(3):186–188.
   PubMedGoogle Scholar
• Roll K. The influence of regional health care structures on delay in diagnosis of rare diseases: the case of Marfan syndrome. Health Policy. 2012;105(2–3):119–127.
   PubMed Web of Science ®Google Scholar
• Lexchin J, Moroz N. Does an orphan drug policy make a difference in access? A comparison of Canada and Australia. Int J Health Serv. 2020;50(2):166–172.
   PubMed Web of Science ®Google Scholar
• Blankart CR, Stargardt T, Schreyögg J. Availability of and access to orphan drugs. Pharmacoeconomics. 2011;29(1):63–82.
   PubMed Web of Science ®Google Scholar
• Baran-Kooiker A, Czech M, Kooiker C. Multi-criteria decision analysis (MCDA) models in health technology assessment of orphan drugs—a systematic literature review.Next steps in methodology development? Frontiers in Public Health 6.2018;6:287.
   PubMed Web of Science ®Google Scholar
• KamushevaM MM, Savova AT, Savova AT, et al. Comparative analysis of legislative requirements about patients’ access to biotechnological drugs for rare diseases in Central and Eastern European Countries. Front Pharmacol. 2018;9:795.
   PubMed Web of Science ®Google Scholar
• Joldic M, Todorovic J, Terzic‐Supic Z. The needs of patients with rare disease in Serbia. Why do we need national strategy for rare disease? Health Soc Care Community. 2019;27(5):e861–e70.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• MerkerVL DA, Radtke HB, Clarke A, et al. Increasing access to specialty care for rare diseases: a case study using a foundation sponsored clinic network for patients with neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis. BMC Health Serv Res. 2018;18(1):1–9.
   PubMedGoogle Scholar
• Lichtenberg FR. The impact of new (orphan) drug approvals on premature mortality from rare diseases in the United States and France, 1999–2007. Eur J Health Econ. 2013;14(1):41–56.
   PubMed Web of Science ®Google Scholar
• Herder M, Krahn TM. Some numbers behind Canada’s decision to adopt an orphan drug policy: US orphan drug approvals in Canada, 1997–2012. Healthcare Policy. 2016;11(4):70.
   PubMedGoogle Scholar
• Hyry H, Manuel J, Cox MT, et al. Compassionate use of orphan drugs. Orphanet J Rare Dis. 2015;10(1):100.
   PubMedGoogle Scholar
• Bourdoncle M, Juillard-Condat B, Taboulet F. Patient access to orphan drugs in France. Orphanet J Rare Dis. 2019;14(1):1–9.
   PubMedGoogle Scholar
• Koçkaya G, Atalay S, Oğuzhan G, et al. Analysis of patient access to orphan drugs in Turkey. Orphanet J Rare Dis. 2021;16(1):1–8.
   PubMed Web of Science ®Google Scholar
• Mestre-Ferrándiz J, Iniesta M, Trapero-Bertran M, et al. Analysis of the evolution in the access to orphan medicines in Spain. Gac Sanit. 2019;34(2):141–149.
   PubMed Web of Science ®Google Scholar
• Denis A, Mergaert L, Fostier C, et al. A comparative study of European rare disease and orphan drug markets. Health Policy. 2010;97(2–3):173–179.
   PubMed Web of Science ®Google Scholar
• PejcicAV IG, Jakovljevic MM, Jakovljevic MM, et al. Access to orphan drugs–comparison across Balkan countries. Health Policy. 2018;122(6):583–589.
   PubMed Web of Science ®Google Scholar
• Kanters TA, Redekop WK, Hakkaart L. International differences in patient access to ultra-orphan drugs. Health Policy Technol. 2018;7(1):.57–64.
   Web of Science ®Google Scholar
• Zelei T, Molnár MJ, Szegedi M, et al. Systematic review on the evaluation criteria of orphan medicines in Central and Eastern European countries. Orphanet J Rare Dis. 2016;11(1):1–11.
   PubMedGoogle Scholar
• Dupont AG, Van Wilder PB. Access to orphan drugs despite poor quality of clinical evidence. Br J Clin Pharmacol. 2011;71(4):488–496.
   PubMed Web of Science ®Google Scholar
• Chua K-P, Conti RM. Out-of-pocket spending on orphan drug prescriptions among commercially insured adults in 2014. J Gen Intern Med. 2019;34(3):338–340.
   PubMed Web of Science ®Google Scholar
• Lee SH, Yoo SL, Bang JS, et al. Patient accessibility and budget impact of orphan drugs in South Korea: long-term and real-world data analysis (2007–2019). Int J Environ Res Public Health. 2020;17(9):2991.
   PubMed Web of Science ®Google Scholar
• KuesterMK JEA, Runyan BM, Runyan BM, et al. The effect of a pediatric rare disease on subscriber retention rates for commercial health insurers in the United States. J Manag Care Spec Pharm. 2019;25(2):186–195.
   PubMed Web of Science ®Google Scholar
• Lopata E, Terrone C, Gopalan A, et al. Meeting the affordability challenges posed by orphan drugs: a survey of payers, providers, and employers. J Manag Care Spec Pharm. 2021;27(6):706–713.
   PubMed Web of Science ®Google Scholar
• Gammie T, Lu CY, Babar ZUD. Access to orphan drugs: a comprehensive review of legislations, regulations and policies in 35 countries. PloS One. 2015;10(10):e0140002.
   PubMed Web of Science ®Google Scholar
• McCormick JI, Berescu LD, Tadros N. Common drug review recommendations for orphan drugs in Canada: basis of recommendations and comparison with similar reviews in Quebec, Australia, Scotland and New Zealand. Orphanet J Rare Dis. 2018;13(1):1–12.
   PubMedGoogle Scholar
• Min R, Zhang X, Fang P, et al. Health service security of patients with 8 certain rare diseases: evidence from China’s national system for health service utilization of patients with healthcare insurance. Orphanet J Rare Dis. 2019;14(1):1–18.
   PubMed Web of Science ®Google Scholar
• McGuire M. Paces of costly care: rare disease drug access in Canada. MedicalAnthropology. 2020;39(4):319–332.
   PubMed Web of Science ®Google Scholar
• Pontes C, Fontanet JM, Vives R, et al. Evidence supporting regulatory-decision making on orphan medicinal products authorisation in Europe: methodological uncertainties. Orphanet J Rare Dis. 2018;13(1):1–15.
   PubMedGoogle Scholar
• Bae EY, Lim MK, Lee B, et al. Who should be given priority for public funding? Health Policy. 2020;124(10):1108–1114.
   PubMed Web of Science ®Google Scholar
• Bourke SM, Plumpton CO, Hughes DA. Societal preferences for funding orphan drugs in the United Kingdom: an application of person trade-off and discrete choice experiment methods. Value Health. 2018;21(5):538–546.
   PubMed Web of Science ®Google Scholar
• Leandro B, Paneque M, Sequeiros J, et al. Insufficient referral for genetic counseling in the management of hereditary haemochromatosis in Portugal: a study of perceptions of health professionals requesting HFE genotyping. J Genet Couns. 2014;23(5):770–777.
   PubMed Web of Science ®Google Scholar
• Berdud M, Drummond M, Towse A. Establishing a reasonable price for an orphan drug. Cost Eff Resour Allocation. 2020;18(1):1–18.
   PubMed Web of Science ®Google Scholar
• Picavet E, Cassiman D, Simoens S. Evaluating and improving orphan drug regulations in Europe: a Delphi policy study. Health Policy. 2012;108(1):1–9.
   PubMed Web of Science ®Google Scholar
• Pohjola P, Hedley V, Bushby K, et al. Challenges raised by cross-border testing of rare diseases in the European union. Eur J Hum Genet. 2016;24(11):1547–1552.
   PubMed Web of Science ®Google Scholar
• Wouters OJ, McKee M, Luyten J. Estimated research and development investment needed to bring a new medicine to market, 2009-2018. JAMA. 2020;323(9):844–853.
   PubMed Web of Science ®Google Scholar
• Dharssi S, Wong-Rieger D, Harold M, et al. Review of 11 national policies for rare diseases in the context of key patient needs. Orphanet J Rare Dis. 2017;12(1):1–13.
   PubMedGoogle Scholar
• National Institute for Health and Clinical Excellence. NICE Citizens Council Report Ultra Orphan Drugs. London, NICE (2004).
   Google Scholar
• Huges DA, Tunnage B, Yeo ST. Drugs for exceptionally rare diseases: do they deserve special status for funding? Q J Med. 2005;98(11):829–836.
   Google Scholar
• National Institute for Health and Clinical Excellence. Appraising Orphan Drugs. London: National Institute for Health and Clinical Excellence; 2008.
   Google Scholar
• Sardella M, Belcher G. Pharmacovigilance of medicines for rare and ultrarare diseases. Ther Adv Drug Saf. 2018;9(11):631–638.
   PubMed Web of Science ®Google Scholar
• Harari S, Humbert M. Ultra-rare disease: an European perspective. Eur Respir Rev. 2020;29(156):200195.
   PubMed Web of Science ®Google Scholar
• 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. 2020;7(7):416.
   PubMedGoogle Scholar
• Kawalec P, Sagan A, Pilc A. The correlation between HTA recommendations and reimbursement status of orphan drugs in Europe. Orphanet J Rare Dis. 2016;11(1):1–11.
   PubMedGoogle Scholar
• Khosla N, Valdez R. A compilation of national plans, policies and government actions for rare diseases in 23 countries. Intractable Rare Dis Res. 2018;7(4):213–222.
   PubMed Web of Science ®Google Scholar
• Khalil H, Peters MDJ, Tricco AC, et al. Conducting high quality scoping reviews - challenges and solutions. J Clin Epidemiol. 2021;130:.156–60.
   PubMed Web of Science ®Google Scholar
• Tricco AC, Lillie W, Zarin KK, et al. PRISMA extension for scoping reviews (PRISMA-ScR): checklist and explanation. Ann Intern Med. 2018;169(7):467–473.
   PubMed Web of Science ®Google Scholar
• Lehoux P, Blume S. Technology assessment and the sociopolitics of health technologies. J Health Polit Policy Law. 2001;25(6):1083–1118.
   Web of Science ®Google Scholar
• Ten Have H. Ethical perspectives on health technology assessment. Int J Technol Assess Health Care. 2004;20(1):1–6.
   PubMed Web of Science ®Google Scholar
• Kim WR BK, Kim WR. Cost-effectiveness analysis and incremental cost-effectiveness ratios: uses and pitfalls. Eur J Gastroenterol Hepatol. 2004;16(6):519–526.
   PubMed Web of Science ®Google Scholar
• Pawson R, Greenhalgh T, Harvey G, et al. Realist review - a new method of systematic review designed for complex policy interventions. J. Health Serv. Res. Policy. 2005;10(6):21–34.
   PubMedGoogle Scholar