Gaucher disease is a rare heritable disease that affects many organs and tissues. It is caused by mutations in a gene called GBA, which encodes for a protein responsible for digesting a cellular waste called glucocerebroside. Mutations in GBA cause the protein to be made incorrectly, and glucocerebroside accumulates to toxic levels within cells as a result.

There are several types of Gaucher disease based on the age of onset of symptoms, and the presence of neurological symptoms. Gaucher disease with neuronal involvement is difficult to treat because most of the treatments currently available cannot cross the blood-brain barrier and are unable to act on the nerve cells.

What is immunotherapy?

Immunotherapy involves the stimulation or activation of the immune system to disease. Immunotherapies may target a specific cell type or may affect the immune system in a more general way by reducing inflammation.

Immunotherapy in Gaucher disease

A study published in the journal Nature showed that glucocerebroside accumulation in the blood activates a small protein called C5aR1, which in turn activates a pro-inflammatory molecule called C5a. C5a triggers inflammation and causes organ and tissue damage. In a mouse model of Gaucher disease, inhibiting C5a was enough to protect the mice from the damaging inflammatory response, as well as promoting clearance of glucocerebroside, which improved survival. Based on these findings, researchers plan to test the anti-C5a monoclonal antibody therapy Soliris (eculizumab) by Alexion as a potential therapeutic candidate for Gaucher disease.

Soliris contains an antibody that binds to C5a, blocking it from inducing an inflammatory response. It is hoped that the treatment may recapitulate the findings of the mouse model in Gaucher disease patients.


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