# Improving access to rare disease diagnostics in Africa: insights from a multinational pilot study

## TL;DR

A pilot study in Africa improved rare disease diagnostics by training clinicians and using dried blood samples to detect lysosomal storage disorders.

## Contribution

The study established a rare disease diagnosis network in sub-Saharan Africa using DBS cards and clinician training.

## Key findings

- Gaucher disease was the most common lysosomal storage disorder identified in the study.
- MPS II was the most prevalent MPS condition, showing patterns similar to the Eastern hemisphere.
- Diagnostic challenges included sample integrity and logistical delays, highlighting areas for improvement.

## Abstract

Rare diseases (RDs) in Africa face challenges such as limited diagnosis, expertise, and treatment. FYMCA Medical Ltd., the International Gaucher Alliance (IGA) and the Centre for Human Metabolomics (CHM) at North‒West University (NWU) launched a pilot study in 2022 to create an African RD diagnosis network, focusing on training clinicians and testing dried blood spot (DBS) samples for 6 lysosomal storage disorders (LSDs). The pilot study spanned eight sub-Saharan African countries (Nigeria, Ghana, Tanzania, Kenya, Mozambique, Uganda, Botswana, and Sudan), with samples sent to South Africa for analysis. Clinician training at the CHM was well received, with positive feedback suggesting hybrid learning for future sessions.

The project registered 56 samples in 27 months; Gaucher disease was most common. MPS II was the most prevalent MPS condition, with a prevalence resembling Eastern hemisphere patterns. Genetic variants were consistent with previous studies, but Fabry diagnoses were rare, which indicates the need for more focused programs.

The high diagnostic yield for LSDs highlights the importance of targeted training and DBS cards for genetic testing. Challenges included sample integrity, referral gaps, and logistical delays. Addressing these barriers and fostering ongoing clinician engagement will enhance diagnostic capacity, whereas presenting findings at an African symposium will increase awareness.

The online version contains supplementary material available at 10.1186/s13023-026-04202-y.