Global insight into rare disease and orphan drug definitions: a systematic literature review.

ABSTRACT:

Objectives

This study sheds light on the available global definitions, classifications, and criteria used for rare diseases (RDs), ultrarare diseases (URDs), orphan drugs (ODs) and ultraorphan drugs (UODs) and provides insights into the rationale behind these definitions.

Design

A systematic literature review was conducted to identify existing definitions and the criteria used to define RDs, ODs and their subtypes.

Data sources

Searches were performed in the PubMed/Medline, Embase, Scopus and Web of Science (Science and Social Sciences Citation Index) databases covering articles published from 1985 to 2021.

Eligibility criteria for selecting studies

English-language studies on the general human population were included if they provided definitions or criteria f

SUBMITTER: Abozaid GM 

PROVIDER: S-EPMC11784410 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature