Global research on Fabry's disease: Demands for a rare disease

Fabry disease (FD), the second most prevalent lysosomal storage disorder, is classified as a rare disease. It often leads to significant quality of life impairments and premature death. Many cases remain undiagnosed due to the rarity and heterogeneity. Further, costs related to treatment often constitute a substantial financial burden for patients and health systems. While its epidemiology is still unclear, newborn screenings suggest that its actual prevalence rate is significantly higher than previously suspected.

Based on well-established methodologies, this study gives an overview about the background of the development of FD-related research and provides a critical view of future needs.

On the grounds of benchmarking findings, an increasing research activity on FD can be observed. Most publishing countries are the USA, some European countries, Japan, Taiwan, and South Korea. In general, high-income countries publish comparably more on FD than low- or middle-income economies. The countries' financial and infrastructural background are unveiled as crucial factors for the FD research activity.

Overall, there is a need to foster FD research infrastructure in developing and emerging countries with focus on cost-intensive genetic research that is independent from economic interests of big pharmaceutical companies.