Klingelhöfer Doris, Braun Markus, Seeger-Zybok Rebekka K, Quarcoo David, Brüggmann Dörthe, Groneberg David A
Institute of Occupational, Social and Environmental Medicine, Goethe University, Frankfurt, Germany.
Mol Genet Genomic Med. 2020 Sep;8(9):e1163. doi: 10.1002/mgg3.1163. Epub 2020 Feb 7.
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.
法布里病（FD）是第二常见的溶酶体贮积症，被归类为罕见病。它常导致生活质量严重受损和过早死亡。由于该病的罕见性和异质性，许多病例仍未得到诊断。此外，治疗相关费用往往给患者和卫生系统带来沉重的经济负担。虽然其流行病学尚不清楚，但新生儿筛查表明其实际患病率明显高于先前的怀疑。
基于成熟的方法，本研究概述了法布里病相关研究的发展背景，并对未来需求提出了批判性观点。
基于基准研究结果，可以观察到关于法布里病的研究活动日益增加。大多数发表研究的国家是美国、一些欧洲国家、日本、台湾和韩国。总体而言，高收入国家发表的关于法布里病的研究比低收入或中等收入经济体更多。各国的财政和基础设施背景被揭示为法布里病研究活动的关键因素。
总体而言，有必要在发展中国家和新兴国家加强法布里病研究基础设施建设，重点是开展成本高昂的基因研究，且不受大型制药公司经济利益的影响。
