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Lysosomal Storage Disorders

Lysosomal storage disorders (LSDs) are a group of inherited diseases which, although individually rare, have a combined incidence of around 1 in every 5,000 births. The individual diseases are caused by mutations in genes which code for proteins contributing to the function of the lysosome.

The lysosome is a cellular compartment which digests different components of cells so that they can be recycled; disruption of this function leads to a build-up of material within them. In LSDs this process impairs the healthy function of cells, tissues, and organs. More recently lysosomes have also been shown to be central to an intricate network which contributes to all aspects of cellular health. As a result, problems with the lysosome cause severe and complex pathology. 

Patients with LSDs may develop symptoms early in childhood and often are severely affected by their illness. Effects of the diseases depend on the specific LSD but can include neurological problems such as developmental delay, seizures, movement disorders, in addition to the damage to other organs such as the heart and liver. Sadly, these diseases are often life-limiting and, because of their complex pathology, are extremely difficult to treat with conventional drugs.

Whilst some LSDs have effective treatments such as replacing the proteins which are no longer functional many patients are still suffering as these proteins cannot reach tissues where they are needed. Crucially, in many instances, they cannot cross the blood-brain barrier to affect the brain, while in other LSDs, different tissues are similarly impacted by a lack of efficient protein delivery. Additionally, LSDs resulting from defects in transmembrane proteins are currently not treatable using conventional protein replacement therapies.

At Evox we are developing exosome therapeutics which have the potential to address not only transmembrane protein defects but also to deliver treatments to hard-to-reach tissues and in doing so correct fundamental defects within the cells. Our goal is to change what is possible for these patients.

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