IDEAS home Printed from https://ideas.repec.org/a/spr/aphecp/v23y2025i2d10.1007_s40258-024-00939-4.html
   My bibliography  Save this article

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
    as

    Download full text from publisher

    File URL: http://link.springer.com/10.1007/s40258-024-00939-4
    File Function: Abstract
    Download Restriction: Access to the full text of the articles in this series is restricted.
    File URL: https://libkey.io/10.1007/s40258-024-00939-4?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    As the access to this document is restricted, you may want to search for a different version of it.

    References listed on IDEAS

    as
    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.
    Full references (including those not matched with items on IDEAS)

    Most related items

    These are the items that most often cite the same works as this one and are cited by the same works as this one.
    1. Wettstein, Dominik J. & Boes, Stefan, 2022. "How value-based policy interventions influence price negotiations for new medicines: An experimental approach and initial evidence," Health Policy, Elsevier, vol. 126(2), pages 112-121.
    2. Vogler, Sabine & Fischer, Stefan, 2020. "How to address medicines shortages: Findings from a cross-sectional study of 24 countries," Health Policy, Elsevier, vol. 124(12), pages 1287-1296.
    3. Carolina Zampirolli Dias & Brian Godman & Ludmila Peres Gargano & Pâmela Santos Azevedo & Marina Morgado Garcia & Maurílio Souza Cazarim & Laís Lessa Neiva Pantuzza & Nelio Gomes Ribeiro-Junior & Andr, 2020. "Integrative Review of Managed Entry Agreements: Chances and Limitations," PharmacoEconomics, Springer, vol. 38(11), pages 1165-1185, November.
    4. Bence Kovács & Miklós Darida & Judit Simon, 2021. "Drugs Becoming Generics—The Impact of Genericization on the Market Performance of Antihypertensive Active Pharmaceutical Ingredients," IJERPH, MDPI, vol. 18(18), pages 1-20, September.
    5. Irene Eriksson & Mia von Euler & Rickard E. Malmström & Brian Godman & Björn Wettermark, 2019. "Did we see it Coming? An Evaluation of the Swedish Early Awareness and Alert System," Applied Health Economics and Health Policy, Springer, vol. 17(1), pages 93-101, February.
    6. Iyn-Hyang Lee & Karen Bloor & Eun-Young Bae, 2023. "A Comparative Analysis of Anticancer Drug Appraisals Including Managed Entry Agreements in South Korea and England," Applied Health Economics and Health Policy, Springer, vol. 21(2), pages 347-359, March.
    7. Marcelien H. E. Callenbach & Rick A. Vreman & Aukje K. Mantel-Teeuwisse & Wim G. Goettsch, 2022. "When Reality Does Not Meet Expectations—Experiences and Perceived Attitudes of Dutch Stakeholders Regarding Payment and Reimbursement Models for High-Priced Hospital Drugs," IJERPH, MDPI, vol. 20(1), pages 1-12, December.
    8. Kyung-Bok Son, 2020. "Is greater generic competition also linked to lower drug prices in South Korea?," Health Economics Review, Springer, vol. 10(1), pages 1-9, December.
    9. Sabine Vogler & Peter Schneider & Nina Zimmermann, 2019. "Evolution of Average European Medicine Prices: Implications for the Methodology of External Price Referencing," PharmacoEconomics - Open, Springer, vol. 3(3), pages 303-309, September.
    10. Sabine Vogler & Kenneth R. Paterson, 2017. "Can Price Transparency Contribute to More Affordable Patient Access to Medicines?," PharmacoEconomics - Open, Springer, vol. 1(3), pages 145-147, September.
    11. Luka Vončina & Tea Strbad & Jurij Fürst & Maria Dimitrova & Maria Kamusheva & Megi Vila & Ileana Mardare & Kristina Hristova & Andras Harsanyi & Dragana Atanasijević & Igor Banović & Ana Bobinac, 2021. "Pricing and Reimbursement of Patent-Protected Medicines: Challenges and Lessons from South-Eastern Europe," Applied Health Economics and Health Policy, Springer, vol. 19(6), pages 915-927, November.
    12. Belousova, Olga A. & Groen, Aard J. & Ouendag, Aniek M., 2020. "Opportunities and barriers for innovation and entrepreneurship in orphan drug development," Technological Forecasting and Social Change, Elsevier, vol. 161(C).
    13. 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.
    14. Sabine Vogler & Guillaume Dedet & Hanne Bak Pedersen, 2019. "Financial Burden of Prescribed Medicines Included in Outpatient Benefits Package Schemes: Comparative Analysis of Co-Payments for Reimbursable Medicines in European Countries," Applied Health Economics and Health Policy, Springer, vol. 17(6), pages 803-816, December.
    15. Jaime Espin & Michael Schlander & Brian Godman & Pippa Anderson & Jorge Mestre-Ferrandiz & Isabelle Borget & Adam Hutchings & Steven Flostrand & Adam Parnaby & Claudio Jommi, 2018. "Projecting Pharmaceutical Expenditure in EU5 to 2021: Adjusting for the Impact of Discounts and Rebates," Applied Health Economics and Health Policy, Springer, vol. 16(6), pages 803-817, December.
    16. Melanie Büssgen & Tom Stargardt, 2023. "Does health technology assessment compromise access to pharmaceuticals?," The European Journal of Health Economics, Springer;Deutsche Gesellschaft für Gesundheitsökonomie (DGGÖ), vol. 24(3), pages 437-451, April.
    17. Tomasz Zaprutko & Julia Cynar & Maria Sygit & Aleksandra Stolecka & Patrycja Skorupska & Paulina Jaszcz & Dorota Kopciuch & Anna Paczkowska & Piotr Ratajczak & Krzysztof Kus, 2024. "Medicines prices in International (Geary–Khamis) Dollar. The comparison between regulated and deregulated markets," PLOS ONE, Public Library of Science, vol. 19(6), pages 1-10, June.
    18. Todd Gammie & Christine Y Lu & Zaheer Ud-Din Babar, 2015. "Access to Orphan Drugs: A Comprehensive Review of Legislations, Regulations and Policies in 35 Countries," PLOS ONE, Public Library of Science, vol. 10(10), pages 1-24, October.
    19. Anna Bastone & Francesco Schiavone & Maria Rosaria Carli & David Juárez-Varón, 2023. "How to shorten the market entry innovation in a highly regulated market. The case of Early access programs in the pharmaceutical industry," International Entrepreneurship and Management Journal, Springer, vol. 19(4), pages 1561-1581, December.
    20. Dominik J. Wettstein & Stefan Boes, 2019. "Effectiveness of National Pricing Policies for Patent-Protected Pharmaceuticals in the OECD: A Systematic Literature Review," Applied Health Economics and Health Policy, Springer, vol. 17(2), pages 143-162, April.

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:spr:aphecp:v:23:y:2025:i:2:d:10.1007_s40258-024-00939-4. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    If CitEc recognized a bibliographic reference but did not link an item in RePEc to it, you can help with this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: Sonal Shukla or Springer Nature Abstracting and Indexing (email available below). General contact details of provider: http://www.springer.com .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.