Criteria to Define Rare Diseases and Orphan Drugs Systematic Literature Review

Author(s)

Abozaid G1, Kerr K2, McKnight A2, Al-Omar H3
1Department of Pharmacy Practice, College of Pharmacy, Princess Nourah bint Abdulrahman University, Riyadh, Saudi Arabia, 2Centre for Public Health, Institute of Clinical Sciences B, Royal Victoria Hospital, Queen's University Belfast School of Medicine, Dentistry and Biomedical Sciences, Belfast, UK, 3Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia

OBJECTIVES: Rare diseases (RDs) are chronic, life-threatening medical conditions individually affecting a low percentage of the population compared to other diseases. A medication used for diagnosis, prevention, or treatment of a rare disease may be known as an Orphan Drug (OD). There is no universal definition for RDs or ODs. This systematic review (SR) identified the quantitative and qualitative criteria used to define RDs, and ODs as well as the underlying rationale, internationally. Keywords: Orphan Drugs; Rare Diseases; Systematic Review; Criteria; Definition.

METHODS: A SR was conducted to identify the criteria used to define RDs and ODs internationally. using different databases PubMed, Medline, EMBASE, Scopus, Web of Science, GreyLit and OpenGrey. Included articles were screened by two independent reviewers using the following criteria: no geographical or timing limitation, all articles being written in English. Rare cancers, infectious rare diseases, or rare diseases due to poisoning were excluded. Extracted data were analysed using thematic and content analyses for qualitative descriptors, and quantitative data were analysed descriptively and reported in the form of frequencies and percentages.

RESULTS: A total of 2712 articles were identified, with 701 articles screened by title and abstract according to inclusion criteria after duplicates were removed. After exclusion and full text screening, only 98 articles were taken forward for data extraction and analysis.

CONCLUSIONS: There is a significant knowledge gap and lack of consensus defining RDs and ODs. This review provided details on international approaches, facilitating development of national policy and collection of harmonized data.

Conference/Value in Health Info

2022-11, ISPOR Europe 2022, Vienna, Austria

Value in Health, Volume 25, Issue 12S (December 2022)

Code

HPR2

Topic

Health Policy & Regulatory

Topic Subcategory

Pricing Policy & Schemes, Procurement Systems, Reimbursement & Access Policy, Risk-sharing Approaches

Disease

No Additional Disease & Conditions/Specialized Treatment Areas

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