Fabry Disease
Fabry disease is a rare genetic disorder characterized by the deficiency or dysfunction of an enzyme called alpha-galactosidase A (α-Gal A). Our company is at the forefront of rare disease research, particularly in the field of conditions like Fabry disease. We take pride in offering comprehensive and unparalleled one-stop services tailored specifically for researchers and scientists in this domain.
Overview of Fabry Disease
Fabry disease is a rare genetic condition that follows an X-linked inheritance pattern, with an incidence of approximately 1 in 40,000 to 1 in 117,000 live male births. While predominantly affecting males, females can also be impacted by this disorder. The disease is characterized by the abnormal accumulation of a lipid known as globotriaosylceramide (Gb3) within various cells and tissues in the body.
Fig.1 Fabry disease is a multi-systemic disease. (Lenders, M., and Brand, E., 2021)Pathogenesis of Fabry Disease
The underlying cause of Fabry disease lies in mutations within the GLA gene, responsible for encoding the α-Gal A enzyme. These genetic abnormalities result in diminished or absent enzymatic activity, leading to the ineffective breakdown of Gb3. As a consequence, there is a progressive buildup of Gb3 within cells, triggering dysfunction, inflammation, and damage to tissues across multiple organ systems.
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
Our vast expertise and dedicated team of professionals are well-versed in the intricacies of rare diseases, allowing us to provide specialized support throughout the entire research process. With our animal models and therapeutic development platform, we provide you with comprehensive services from disease mechanism research to innovative therapy development.
Platforms of Fabry Disease Therapy Development
Animal Models of Fabry Disease
Animal models play a crucial role in elucidating the pathogenesis of Fabry disease, evaluating novel therapeutic strategies, and assessing the safety and efficacy of potential therapeutics. Our company provides a variety of animal models to support your research of Fabry disease.
Genetically engineered animal models involve genetic engineering techniques such as CRISPR/Cas9 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.