General Medicine · Medical Literature
Scoping review protocol of interventions for widening access to healthcare services in people living with rare diseases in Africa
Abstract
Introduction 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. Methods 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. Sources: 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. Eligibility criteria: 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. Data extraction and synthesis: 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. Ethics and dissemination 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 publication
Clinical relevance
This scoping review protocol addresses a critical and underexplored gap in global health equity: the near-total absence of systematically mapped interventions for people living with rare diseases across the African continent, a population estimated to represent 6–8% of Africa's total population when rare diseases are considered collectively. Patients with rare diseases in Africa face a diagnostic odyssey averaging more than 5 years, compounded by fragmented care systems, limited specialist availability, and prohibitive out-of-pocket costs for orphan drugs that are largely unavailable in the region. Clinicians and policymakers urgently need a synthesized evidence base to design pragmatic, context-sensitive interventions, particularly as competing health priorities (e.g., infectious diseases) have historically deprioritized rare disease care on the continent.
Key findings
1. This is a protocol paper; no primary outcome data or effect sizes are reported. All findings below describe the methodological framework rather than study results. 2. The review will employ the Arksey and O'Malley scoping review framework, refined by Levac et al., across six structured stages, including a mandatory stakeholder consultation phase — a methodological strength that enhances contextual validity for diverse African healthcare settings. 3. Eligible studies must have been conducted in Africa, published between 2004 and 2024, and focused on interventions aimed at improving healthcare access for people living with rare diseases — a 20-year window designed to capture post-genomic-era evidence. 4. Search sources include major electronic databases (PubMed, Scopus, Web of Science) plus grey literature (conference abstracts, institutional reports), maximizing capture of region-specific data that is often unpublished in peer-reviewed outlets. 5. A dual-reviewer independent screening process with third-reviewer arbitration for disagreements and a standardized data extraction form will be used, ensuring methodological rigor and reproducibility. 6. Ethics waiver was granted by Sefako Makgatho Health Sciences University (SMUREC/M/365/2025); no quantitative outcomes, confidence intervals, p-values, NNTs, or NNHs are available at the protocol stage.
Practice implications
Clinicians managing patients with rare diseases in African settings should anticipate that this review will produce the first continent-wide map of access interventions, potentially identifying scalable models such as telehealth, community-based care, and regional referral networks that can be adapted within resource-constrained systems. Pending the full review's findings, attending physicians should proactively screen for delayed diagnosis (average odyssey >5 years) and engage multidisciplinary teams and patient advocacy organizations early, given the documented scarcity of specialist expertise across most African health systems. Policymakers and hospital administrators should use the forthcoming evidence synthesis to advocate for inclusion of rare disease pathways in national digital health strategies and essential medicines lists, areas currently identified as major structural gaps across the continent.