Scoping review protocol of interventions for widening access to healthcare services in people living with rare diseases in Africa.

Abstract

People living with rare diseases in Africa face substantial barriers to accessing healthcare services, including delayed diagnoses, limited treatment options and fragmented care systems. The main objective of the scoping review is to explore and map existing interventions designed to improve access to healthcare services for individuals living with rare diseases across the African continent. Design: The scoping review will be conducted using the Arksey and O'Malley framework, further refined by the enhancements proposed by Levac and colleagues. The process will follow six key stages: (1) identifying the research question, (2) identifying relevant studies, (3) selecting eligible studies, (4) charting the data, (5) collating, summarising and reporting the results, and (6) stakeholder consultation. A comprehensive search strategy will be implemented across several electronic databases, including PubMed, Scopus and Web of Science. Additionally, grey literature sources such as conference abstracts and institutional reports will be included. Studies will be eligible if they were conducted in Africa, published between 2004 and 2024 and focused on interventions aimed at improving access to healthcare for people living with rare diseases. Two independent reviewers will screen all titles, abstracts and full texts, with disagreements resolved through discussion or a third reviewer. Data will be extracted using a standardised extraction form. The protocol has obtained waiver from the ethics committee of Sefako Makgatho Health Sciences University (SMUREC/M/365/2025). The findings will provide valuable insights for physicians, laboratory scientists, researchers and policymakers, highlighting pragmatic and cost-effective strategies to enhance healthcare access for individuals with rare diseases in Africa. Results will be disseminated through peer-reviewed publications, policy briefs, conference presentations and stakeholder engagement activities.