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Meet the Smart4Fabry project

Rare diseases can severely affect quality of life and life expectancy. Lysosomal storage disorders, LSDs, such as Fabry, Gaucher, Hunter, and Sanfilippo diseases are a group of rare diseases that currently lack a totally effective treatment. These kind of diseases individually occur with incidences of less than 1:100,000, but as a group the incidence is between 1:5,000 to 1:10,000, representing a serious global health problem. Lysosomal storage disorders result as a consequence of lysosomal dysfunction, usually due to a deficiency of a single enzyme required for the metabolism of macromolecules such as lipids, glycoproteins and mucopolysaccharides. People who suffer from Fabry disease, have a deficiency of GLA enzyme activity results in the cellular accumulation of neutral glycosphingolipids, that leads to widespread vasculopathy with particular detriment to the kidneys, heart and central nervous system. The European-funded project Smart-4-Fabry has been conceived to obtain a new nanoformulation of GLA using nanocapsules, that will improve the toleration and efficacy compared to the current enzyme replacement treatment with non-formulated GLA.