Fabry disease (FD) is a rare genetic disorder. Leveraging our pioneering efforts in FD research, we stand at the forefront of developing cutting-edge diagnostic tools to enhance the effective management of FD. As your trusted partner in FD diagnostic research, we provide unparalleled support to meet your research needs.
Introduction to Fabry Disease
Fabry disease (FD) stands as a rare genetic lysosomal storage disorder, characterized by a deficiency in the alpha-galactosidase A enzyme. This enzyme inadequacy leads to the accumulation of sphingolipids in blood vessels and tissues, heightening the risk of severe complications like heart attacks, strokes, and kidney failure. FD is inherited in an X-linked manner and therefore primarily affects males. It is estimated that approximately 1:22,000 to 1:40,000 males have a classic Fabry disease mutation.
Fig. 1 Pathophysiology of Fabry disease. (Lerario S, et al., 2024)
Pathogenesis of Fabry Disease
The pathogenesis of Fabry disease (FD) lies in mutations of the galactosidase alpha (GLA) gene located on the X chromosome. The table below shows the pathogenesis of FD in steps.
| Steps |
Description |
| Galactosidase alpha (GLA) gene mutation |
Mutations in the GLA gene result in deficient activity of the alpha-galactosidase A (alpha-GAL) enzyme, which is essential for breaking down glycosphingolipids within lysosomes. |
| Insufficient alpha-galactosidase A activity |
In the absence of functional alpha-GAL enzyme, glycosphingolipids, particularly globotriaosylceramide (Gb3), accumulate within various cells and tissues throughout the body. |
| Glycosphingolipid accumulation |
The progressive build-up of Gb3 in endothelial cells, smooth muscle cells, cardiomyocytes, and podocytes leads to widespread microvascular endothelial dysfunction and tissue damage. |
In Vitro Diagnostic Development for Fabry Disease
In vitro diagnosis of Fabry disease (FD) plays a pivotal role in the early detection, accurate diagnosis, and monitoring of this rare genetic disorder. There are α-galactosidase A (α-GLA) detection kits available on the market that can be used for the diagnosis of FD. Based on the pathogenesis and metabolic pathways of FD, in vitro diagnostic products for FD can be developed from the following aspects.
Enzyme Activity Assays
Decreased alpha-GAL enzyme activity signals Fabry Disease, showing the enzyme deficiency causing glycosphingolipid buildup. Assays typically use fluorescent or colorimetric substrates to measure alpha-GAL activity in cells or blood samples.
Genetic Testing
Genetic testing plays a crucial role in confirming a diagnosis of Fabry Disease and identifying disease-causing mutations in the galactosidase alpha (GLA) gene. Molecular genetic analysis allows for the detection of pathogenic variants in the GLA gene.
Enzyme Activity Assays
Biomarker analysis is utilized in the in vitro diagnosis of Fabry Disease. Biomarkers such as lyso-Gb3 (globotriaosylsphingosine) have emerged as valuable indicators of disease severity and progression in individuals with Fabry Disease.
Our Services
Through in-depth research on the pathogenesis and metabolic biomarkers of Fabry disease (FD), our scientists have worked tirelessly to develop in vitro diagnostic products for FD. Our company specializes in creating highly specific genetic testing kits for identifying mutations in the alpha-galactosidase A (GLA) gene. Through advanced biochemical analysis methods, we design metabolite testing kits to track alpha-GAL enzyme activity and lyso-Gb3 levels in blood accurately.
Through the development of supporting diagnostic devices, we can achieve efficient and automated detection of Fabry disease (FD) to promote early detection and timely intervention of FD.
Our services are not limited to these. We also provide point-of-care testing and companion diagnostic development services to enable rapid diagnosis and personalized treatment of Fabry disease (FD).
Point-of-care Testing and Companion Diagnostics
Point-of-care (POC) tests for Fabry disease offer rapid and convenient diagnostic solutions that can be performed at the patient's bedside or in a clinical setting, enabling swift diagnosis and immediate intervention.
Companion diagnostics play a critical role in personalized medicine by identifying patients who are most likely to benefit from specific treatments, such as enzyme replacement therapy (ERT) for Fabry disease.
If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Lerario S, Monti L, Ambrosetti I, et al. Fabry disease: a rare disorder calling for personalized medicine[J]. International Urology and Nephrology, 2024: 1-12.
- Vardarli I, Rischpler C, Herrmann K, et al. Diagnosis and screening of patients with Fabry disease[J]. Therapeutics and clinical risk management, 2020: 551-558.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
