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

ABSTRACT

Objectives

Rare diseases are recognized as non-prevalent health disorders. Availability, accessibility, and affordability of Orphan Drugs (ODs), alongside genetic testing, are the major contributors to ensuring no patient is excluded by the health system. Therefore, making ODs available and accessible has been a challenge even for high-income nations. This review aims to summarize the evidence on the availability and accessibility of orphan drugs and other required resources for managing rare diseases.

Methods

The Joanna Briggs Institute scoping review method was used as the analytical framework. We searched Medline, and Embase through Ovid, and Web of Science. We used Guilford et al. definition and classification of accessibility and its dimensions to synthesize the evidence.

Results

The majority of the final included evidence is about the financial, and then availability and physical accessibility to ODs. Furthermore, almost all the evidence comes from high-income countries.

Conclusion

The principal hurdles to the availability and accessibility of ODs and other related services are very high prices, lack of a legal framework, and budgetary impact on public funding. A lack of reimbursement mechanisms and lower availability of other resources are among other problems.

KEYWORDS:

• Rare diseases
• orphan drugs
• availability
• accessibility
• systematic scoping review

List of Abbreviations

RDs Rare DiseasesODs Orphan DrugsPWLRDs People Who Live with Rare DiseasesUSA United States of AmericaEU European UnionCEECs Central East European CountriesFDA Food and Drug AdministrationDCR Drug Committee ReviewNHS National Health ServicesUHC Universal Health CoverageWHO World Health OrganizationWB World BankUK United KingdomUSD United States DollarEMA European Medical AgencyNC National CodeAEMPS Agencia Espanola de Medicamentos y Productos SanitariosPYLL Potential Years of Life LostWE Western EuropeanPRISMA Preferred Reporting Items Standard for Systematic Review and Meta-AnalysisMeSH Medical Subject HeadingHTA Health Technology AssessmentNICE National Institute for Health and Care ExcellenceQALYs Quality Adjusted Life YearsCET Cost-Effectiveness ThresholdR&D Research and Development

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewer disclosure

A reviewer on this manuscript has disclosed that one of their own research studies has been included by the authors in this new work. All other peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Data availability statement

The present work is a systematic review and as such, all data are publicly available through the cited data sources.

Supplementary material

Supplemental data for this article can be accessed online at https://doi.org/10.1080/21678707.2022.2153671

Additional information

Funding

This paper was not funded.