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GBA-associated disease

Gaucher disease is a lysosomal storage disorder that affects around 1 in 60,000 people.

It is caused when a person inherits two faulty copies of a gene responsible for making an enzyme called ‘glucocerebrosidase’. This enzyme is responsible for breaking down some types of lipids in a cell so that they can be recycled. In Gaucher disease, the deficiency of the enzyme means lipids build up in the lysosome. As a result, cellular function is disrupted, and this prevents major organs in the body from working effectively.

There is a great deal of variation in the severity of Gaucher disease and patients can develop a wide range of symptoms. Sadly, with the most severe form of the disease infants develop neurological disorders and may die shortly after birth.  Other patients develop problems such as anaemia and other blood disorders, osteoporosis and joint pain or skin changes, but these patients may have no neurological symptoms.

The majority of patients with Gaucher disease can be effectively treated by giving them infusions of the missing glucocerebrosidase enzyme. Unfortunately, this enzyme infusion cannot cross the blood brain barrier, so cannot be used to treat patients with neurological symptoms. Here at Evox, we hope to resolve this problem. By encapsulating the enzyme in our exosomes we hope to extend the benefits of protein replacement therapy to patients with neurological symptoms. We hope this next generation approach will ensure all patients can benefit from treatment.

In addition to this, Evox is looking at other ways to use knowledge about this faulty gene to help more people. Recent research has shown that individuals with just one copy of the faculty gene may also face health risks.  These individuals face a five-fold increase in developing Parkinson’s disease and a six-fold increase in developing dementia with Lewy bodies. This suggests that glucocerebrosidase enzyme deficiency may be involved in the development of these neurological conditions, and that Evox’s work in Gaucher disease could also translate into new therapies for these common and serious diseases. 

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