Lysosomal storage disorders (LSDs), such as Fabry, Gaucher, Hunter, and Sanfilippo diseases are a group of Rare Diseases that currently lack a definitive cure. These kind of diseases individually occur with incidences of less than 1:100,000; but as a group the incidence is about 1:5,000 – 1:10,000, representing a serious global health problem.
LSDs result as a consequence of lysosomal dysfunction, usually because of deficiency of a single enzyme required for the metabolism of macromolecules such as lipids, glycoproteins and mucopolysaccharides.
In the case of the Fabry Disease (FD), the deficiency of α-Galactosidase A (GLA) enzyme activity result in the cellular accumulation of neutral glycosphingolipids, leading to widespread vasculopathy with particular detriment to the kidneys, heart and central nervous system.
The current treatment for the Fabry Disease is the Enzyme Replacement Therapy (ERT), in which free GLA recombinant protein is administered intravenously to patients. ERT exhibits several drawbacks mainly related to the instability, high immunogenicity and low efficacy of the exogenously administered GLA to cross biological barriers, such as cell membranes and BBB. Therefore, development of new treatments for this type of rare diseases has become a key priority for European Research policy.
The use of nanotechnology based on the development of new lipid nanoformulations will protect and specifically deliver active compounds and improve the pharmacokinetics and pharmacodynamics of actual Fabry disease therapies by decreasing the total dose of drug used, minimizing the toxicity profile, reducieng the appearance of resistance and increasing the delivery of the enzyme in the target tissue.
Smart-4-Fabry is strongly focusing on three KETs: nanotechnology, industrial biotechnology and advanced materials, contributing in this way to support the European Strategy for KETs, which aims to reverse the decline in manufacturing as this will stimulate growth and jobs.