Arimoclomol is an experimental treatment originally created by CytRx Corporation that is now being developed by Orphazyme to treat several lysosomal storage disorders, including Gaucher disease.

How arimoclomol works

Gaucher disease is a serious heritable disease caused by mutations in a gene that encodes for an enzyme called GBA. Mutations in this gene lead to the enzyme not being made correctly and a critical waste-disposal step cannot be carried out in the lysosome, the waste disposal compartment inside cells. As a result, waste products build up to toxic levels inside cells, affecting many organs and tissues and causing the symptoms of Gaucher disease.

Arimoclomol is a small molecule, which increases the level of proteins in the cell called heat shock proteins. Heat shock proteins are a special type of protein that function as chaperones. Chaperone proteins bind to newly made proteins and help them fold into the correct configuration. By increasing the amount of heat shock proteins, arimoclomol may be able to increase the amount of functional GBA that is present in the lysosome, despite mutations in the gene.

Arimoclomal is predicted to cross the blood-brain barrier, which means that it may be able to treat both neuronal and non-neuronal types of Gaucher disease. No effective treatments are currently available for Gaucher disease with neuronal symptoms, as enzyme replacement therapy and substrate reduction therapy cannot cross the blood-brain barrier.

Arimoclomol in clinical trials

A Phase 2 clinical trial (NCT03746587) is currently recruiting patients with type 1 or type 3 Gaucher disease at eight locations across India to evaluate patient response to three different doses of arimoclomol. About 40 participants are expected, ranging in age from 4 to 60. Participants will be randomly assigned to receive one of three doses of arimoclomol or a placebo. The primary outcome measured will be the level of waste products in the blood at six-month intervals. The trial is expected to be completed in July 2020.


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