Fabry Disease
Fabry disease is an unusual genetic disorder characterized by the absence or impairment of the enzyme alpha-galactosidase A (α-Gal A). Our company is one of the leaders in pioneering research and innovation of rare diseases, particularly with Fabry disease. We are proud to deliver cost effective and comprehensive one-stop services designed specifically for researchers and scientists working in this field.
Overview of Fabry Disease
Fabry disease is an uncommon genetic disorder that has a pedigree X-linked pattern and has its prevalence between 1 for every 40,000 to 1 for every 117,000 live male births. Although it mainly affects men, women tend to suffer from this disease as well. The condition displays the pathological features of excessive storage of a lipid called globotriaosylceramide (Gb3) in different cells and tissues of the body.
Fig.1 Fabry disease is a multi-systemic disease. (Lenders, M., and Brand, E., 2021)Pathogenesis of Fabry Disease
The pathophysiology of Fabry disease is due to the changes that take place in the GLA gene which partition an enzyme known as α-Gal A. These genetic modifications cause increased or absent functioning of the enzyme which causes ineffective end product breakdown of Gb3. This progressive phenomenon results in an incessant build up of Gb3 in cells leading to cell impairment, inflammation, and destroying tissues of many organs.
Fig.2 The GLA synthetic process and the various therapeutic strategies for Fabry disease. (Li, X., et al., 2022)Therapeutics Development of Fabry Disease
| Types | Names | Mechanism of Action | Targets | Research Phase |
|---|---|---|---|---|
| Enzyme replacement therapy | Replagal® | Recombinant α-Gal A enzyme | α-Gal A | Approved |
| Pegunigalsidase alfa | The pegylated form of α-Gal A | α-Gal A | Phase III trials | |
| Chaperone therapy | Migalastat | Competitive inhibition of α-Gal A | α-Gal A | Approved |
| Substrate reduction therapy | Venglustat | Inhibition of glucosylceramide synthase | Glucosylceramide | Phase III trials |
| Lucerastat | Inhibition of glucosylceramide synthase | Glucosylceramide | Phase III trials | |
| Stem cell therapy | AVR-RD-01 | Express α-Gal A via infusion of autologous hematopoietic stem cells engineered | α-Gal A | Phase II trials |
| Gene therapy | 4D-310 | Recombinant Adeno-associated virus vectors carrying DNA encoding α-Gal A | α-Gal A | Phase II trials |
Our Services
We offer support throughout the entire research process because our team is highly skilled and experienced in rare diseases. We have animal models and a therapeutic development platform which enables us to offer services ranging from disease mechanism studies to innovative therapy development.
Platforms of Fabry Disease Therapy Development
Animal Models of Fabry Disease
Animal models are essential for the understanding of the pathogenesis of Fabry disease, experimentation with novel therapeutic modalities, and the safety and efficacy testing of emerging therapeutics. We offer a variety of animal models that will enable our clients to study Fabry disease.
Genetically engineered animal models involve genetic engineering techniques to alter animal genomes to replicate the genetic mutations.
Optional Models: Glatm1Kul model; Elp1tm1Id model, etc.
Why Choose Us
Our state-of-the-art facilities, cutting-edge technologies, and extensive network of collaborators enable us to deliver high-quality and reliable services. We provide pharmacokinetic studies and biosafety evaluation services and committed to advancing knowledge and making a significant impact in the field of rare diseases.
If you are interested in learning more about our services and how we can support your research endeavors, please do not hesitate to reach out to us for further information.
References
- Li, Xi et al. "Fabry disease: Mechanism and therapeutics strategies." Frontiers in pharmacology 13 (2022): 1025740.
- Palaiodimou, Lina et al. "Fabry Disease: Current and Novel Therapeutic Strategies. A Narrative Review." Current neuropharmacology 21.3 (2023): 440-456.
- Lenders, Malte, and Eva Brand. "Fabry Disease: The Current Treatment Landscape." Drugs 81.6 (2021): 635-645.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.