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Fabry Disease

Fabry disease is a rare X-linked lysosomal storage disorder caused by a mutation of the GLA gene that results in deficient enzyme activity of α-galactosidase A. This deficiency results in progressive accumulation of the substrate globotriaosylceramide (Gb3) across various tissues. Protheragen delivers end-to-end preclinical therapeutic development services for Fabry disease, including target discovery, diagnostics, and advanced disease modeling to accelerate breakthroughs.

Introduction to Fabry Disease

Fabry disease is caused by α-galactosidase A deficiency. The resultant systemic accumulation of Gb3 and lyso-Gb3 drives cardiovascular, renal, and neurological complications. Newer studies have shown the relevance of secondary biomarkers, including plasma lyso-Gb3, in assessing the progression of the disease. It is phenomenally evaluated for its increased clinical heterogenicity with its classical forms appearing in childhood and the more benign, late-onset forms emerging in adulthood as isolated organ dysfunction.

Fig.1 Pathophysiology of Fabry disease. (Lerario et al., 2021)

Biomarkers Development for Fabry Disease

Extracellular Vesicle (EV) Profiling: EVs obtained from patients with Fabry disease through ultracentrifugation and size-exclusion chromatography display disease-specific lipidomic signatures. These signatures include increased levels of Gb3, lactosylceramide, which correlate with tissue damage. High-resolution mass spectrometry (HR-MS) accurately quantifies lipid species, providing a more precise non-invasive technique to monitor treatment and assess the phenotype of the disease.

Proteomic Biomarkers: Serum galectin-3 and FGF21 have been discovered as key biomarkers for Fabry-associated cardiomyopathy and renal fibrosis and have greater prognostic value than existing proteomic markers. Integration of single-cell proteomics with other omics, such as lysosomal Globotriaosylceramide, improves prediction models, while single-cell proteomics exposes immune dysregulation for more directed therapeutic options.

Therapeutics Development for Fabry Disease

Fabry disease therapeutic development focuses on the two strategies of correcting the primary enzyme defect and slowing down, or correcting, the secondary pathological processes with the new strategies of gene editing, mRNA enzymatic prodrug delivery, and lipid accumulation and inflammation-modifying molecules.

Table.1 Therapeutic Development for Fabry Disease.

Therapeutic Strategy	Therapeutic Target	Key Findings/Mechanism	Development Stage
Agalsidase Alfa/Beta	α-Galactosidase	Recombinant enzyme replacement via intravenous infusion.	Approved
Moss-derived Enzyme	Mannose receptor-mediated uptake	Moss-produced α-galactosidase A with mannose-terminated glycans.	Phase I/II
Substrate Reduction	Glucosylceramide synthase (GCS)	Inhibits GCS to reduce GB3 synthesis.	Phase II/III
Gene Therapy	GLA gene correction	Corrects enzyme deficiency at genetic level. Viral/non-viral delivery of functional GLA gene.	Phase I
mRNA Therapy	Hepatocyte protein synthesis	Lipid nanoparticle-encapsulated mRNA for hepatic enzyme production.	Phase I/II

Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.

Our Services

Protheragen is a pioneer in providing integrated preclinical solutions within the context of Fabry disease therapeutic development. Our specialists use sophisticated tools for accelerating the process of drug and diagnostic development, under the auspices of comprehensive therapeutic development and disease model development.

Therapeutics Development Platforms for Fabry Disease

Disease Model Development for Fabry Disease

Protheragen delivers tailored in vitro models (2D cell models and 3D skin models) to study Fabry disease pathology, including lysosomal Gb3 accumulation, impaired α-galactosidase A activity, and inflammatory signaling cascades.

2D Cell Models & 3D Skin Models

Patient-derived keratinocytes with TP63 mutations
iPSC-derived ectodermal progenitor cells
Skin-on-a-chip with stratified epithelium

Animal Models Development

Conditional Tp63 knockout mice
Humanized TP63 p.R304Q transgenic mice
Gene-edited Tp63Δ11 rats

As a preclinical research service provider, Protheragen develops therapies for rare skin diseases, such as Fabry disease. Protheragen performs GLA gene target validation, disease modeling, drug safety evaluation and DMPK services using fully integrated cell models, 3D organoids, and multi-organ animal models which have Fabry disease pathology.

Contact us to explore how our end-to-end solutions can advance your Fabry disease research.

References

Kok, K., et al. "Fabry Disease: Molecular Basis, Pathophysiology, Diagnostics and Potential Therapeutic Directions." Biomolecules 11.2 (2021).
Lerario, S., et al. "Fabry Disease: A Rare Disorder Calling for Personalized Medicine." Int Urol Nephrol 56.10 (2024): 3161-72.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.