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. 2025 Mar;23(2):209-229.
doi: 10.1007/s40258-024-00939-4. Epub 2024 Dec 28.

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

Constanza Vargas  1 , Richard De Abreu Lourenco  2 , Manuel Espinoza  3 , Stephen Goodall  2
Affiliations

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

Constanza Vargas et al. Appl Health Econ Health Policy. 2025 Mar.

Erratum in

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.

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Conflict of interest statement

Declarations. Funding: This research was conducted under the doctorate program in health economics at the University of Technology Sydney with funding from the UTS Research Excellence Scholarship. No other funding was provided. Conflict of interest: Constanza Vargas, Richard De Abreu Lourenco, Manuel Espinoza, and Stephen Goodall have no conflicts of interest that are directly relevant to the content of this article. Ethics approval: The UTS Human Research Ethics Committee (UTS HREC REF NO ETH21-6090) granted approval for this research. Consent to participate: Not applicable. Consent for publication: Not applicable. Availability of data and material: Data informing this research are based on the published literature. Search strategies are available in the Electronic Supplementary Material. Code availability: Not applicable. Author contributions: CV conducted the literature search, CV/PV reviewed the identified articles and selected those relevant to the study, CV/SG/RDAL/ME conceptualized the search strategy and focus/objectives of the systematic review, CV drafted the manuscript, RDAL/SG/ME reviewed the manuscript, and SG/CV/ME/RDAL agreed on the final version of the manuscript.

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References

    1. European Medicines Agency. Orphan designation: overview 2023. https://www.ema.europa.eu/en/human-regulatory/overview/orphan-designatio... . Accessed 13 Dec 2024.
    1. Clarke JTR, Coyle D, Evans G, Martin J, Winquist E. Toward a functional definition of a “rare disease” for regulatory authorities and funding agencies. Value Health. 2014;17(8):757–61.
    1. Nestler-Parr S, Korchagina D, Toumi M, Pashos CL, Blanchette C, Molsen E, 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.
    1. Dharssi S, Wong-Rieger D, Harold M, Terry S. Review of 11 national policies for rare diseases in the context of key patient needs. Orphanet J Rare Dis. 2017;12(1):63.
    1. Weerasooriya SU. The impact of orphan drug policies in treating rare diseases. Health Info Libr J. 2019;36(2):179–84.

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