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Systematic Literature Review of Access Pathways to Drugs for Patients with Rare Diseases

Author

Listed:
  • Constanza Vargas

    (University of Technology Sydney)

  • Richard Abreu Lourenco

    (University of Technology Sydney)

  • Manuel Espinoza

    (Pontificia Universidad Católica de Chile)

  • Stephen Goodall

    (University of Technology Sydney)

Abstract

Objective This article reviews the assessment pathways that have been implemented worldwide to facilitate access to drugs for patients with rare diseases. Methods The Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines were used to conduct a systematic literature review. The Ovid (Embase/MEDLINE), Cochrane, Web of Science, Econlit, National Institute of Health Research, Centre for Reviews and Dissemination, and International Network of Agencies for Health Technology Assessment databases were searched. Two independent reviewers screened all titles and abstracts; one reviewer did the full-text review and data extraction. Data were extracted on study general characteristics, general aspects of rare diseases, source of funding, allocation of public resources (e.g., use of health technology assessment), and pricing strategies. Assessment pathways were classified as: (1) separate processes; (2) exception to standard process; (3) standard process with no change; and (4) alternative process. Each assessment pathway was characterized based on its unique characteristics specific to rare diseases focusing on whether they targeted specific aspects of the process, utilized particular methodologies during the evaluation of the evidence, or considered specific attributes in the recommendation. Results A total of 5604 unique citations were screened and 158 were included for data extraction. Sixty-one assessment pathways were identified in 43 countries, categorized as separate processes (37%), exceptions to standard processes (32%), standard processes with no changes (26%), and alternative processes (5%). Some countries (10/43; 23%) have more than one assessment pathway available. Assessment pathways varied in their inclusion of a health technology assessment, source of funding, consideration of uncertainty, and pricing strategies. Conclusions The diversity of assessment pathways reflects the complexity of addressing access to treatments for rare diseases. Furthermore, most assessment pathways are from high-income countries; therefore, there is less clarity on what is happening in low- and middle-income countries.

Suggested Citation

  • Constanza Vargas & Richard Abreu Lourenco & Manuel Espinoza & Stephen Goodall, 2025. "Systematic Literature Review of Access Pathways to Drugs for Patients with Rare Diseases," Applied Health Economics and Health Policy, Springer, vol. 23(2), pages 209-229, March.
  • Handle: RePEc:spr:aphecp:v:23:y:2025:i:2:d:10.1007_s40258-024-00939-4
    DOI: 10.1007/s40258-024-00939-4
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    References listed on IDEAS

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    1. Rosenberg-Yunger, Zahava R.S. & Daar, Abdallah S. & Thorsteinsdóttir, Halla & Martin, Douglas K., 2011. "Priority setting for orphan drugs: An international comparison," Health Policy, Elsevier, vol. 100(1), pages 25-34, April.
    2. Löblová, Olga & Csanádi, Marcell & Ozierański, Piotr & Kaló, Zoltán & King, Lawrence & McKee, Martin, 2019. "Alternative access schemes for pharmaceuticals in Europe: Towards an emerging typology," Health Policy, Elsevier, vol. 123(7), pages 630-634.
    3. Degtiar, Irina, 2017. "A review of international coverage and pricing strategies for personalized medicine and orphan drugs," Health Policy, Elsevier, vol. 121(12), pages 1240-1248.
    4. Iskrov, Georgi & Miteva-Katrandzhieva, Tsonka & Stefanov, Rumen, 2012. "Challenges to orphan drugs access in Eastern Europe: The case of Bulgaria," Health Policy, Elsevier, vol. 108(1), pages 10-18.
    5. Vogler, Sabine & Paris, Valérie & Ferrario, Alessandra & Wirtz, Veronika J. & Joncheere, Kees de & Schneider, Peter & Pedersen, Hanne Bak & Dedet, Guillaume & Babar, Zaheer-Ud-Din, 2017. "How can pricing and reimbursement policies improve affordable access to medicines? Lessons learned from European countries," LSE Research Online Documents on Economics 68862, London School of Economics and Political Science, LSE Library.
    6. Pejcic, Ana V. & Iskrov, Georgi & Jakovljevic, Mihajlo Michael & Stefanov, Rumen, 2018. "Access to orphan drugs – comparison across Balkan countries," Health Policy, Elsevier, vol. 122(6), pages 583-589.
    7. Qin Xiang Ng & Clarence Ong & Kai En Chan & Timothy Sheng Khai Ong & Isabelle Jia Xuan Lim & Ansel Shao Pin Tang & Hwei Wuen Chan & Gerald Choon Huat Koh, 2024. "Comparative policy analysis of national rare disease funding policies in Australia, Singapore, South Korea, the United Kingdom and the United States: a scoping review," Health Economics Review, Springer, vol. 14(1), pages 1-15, December.
    8. Villa, Federico & Tutone, Michaela & Altamura, Gianluca & Antignani, Sara & Cangini, Agnese & Fortino, Ida & Melazzini, Mario & Trotta, Francesco & Tafuri, Giovanni & Jommi, Claudio, 2019. "Determinants of price negotiations for new drugs. The experience of the Italian Medicines Agency," Health Policy, Elsevier, vol. 123(6), pages 595-600.
    9. Sabine Vogler & Valérie Paris & Alessandra Ferrario & Veronika J. Wirtz & Kees Joncheere & Peter Schneider & Hanne Bak Pedersen & Guillaume Dedet & Zaheer-Ud-Din Babar, 2017. "How Can Pricing and Reimbursement Policies Improve Affordable Access to Medicines? Lessons Learned from European Countries," Applied Health Economics and Health Policy, Springer, vol. 15(3), pages 307-321, June.
    10. Löblová, Olga & Csanádi, Marcell & Ozierański, Piotr & Kaló, Zoltán & King, Lawrence & McKee, Martin, 2019. "Patterns of alternative access: Unpacking the Slovak extraordinary drug reimbursement regime 2012-2016," Health Policy, Elsevier, vol. 123(8), pages 713-720.
    11. Ana Babac & Kathrin Damm & J.-Matthias Schulenburg, 2019. "Patient-reported data informing early benefit assessment of rare diseases in Germany: A systematic review," Health Economics Review, Springer, vol. 9(1), pages 1-17, December.
    12. Douglas, Conor M.W. & Wilcox, Elizabeth & Burgess, Michael & Lynd, Larry D., 2015. "Why orphan drug coverage reimbursement decision-making needs patient and public involvement," Health Policy, Elsevier, vol. 119(5), pages 588-596.
    13. Cara Usher & Laura McCullagh & Lesley Tilson & Michael Barry, 2019. "Analysis of Health Technology Assessments of Orphan Drugs in Ireland from 2012 to 2017," PharmacoEconomics - Open, Springer, vol. 3(4), pages 583-589, December.
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