Our Research
We are focused on understanding the cell-protective properties of heat shock proteins (HSPs) and translating this science to create a novel treatment for rare neurodegenerative diseases.
LYSOSOMAL STORAGE DISEASES (LSDs) are inherited metabolic disorders in which enzyme deficiencies result in an accumulation of toxic materials in the cells of the body. These deficiencies are often caused by mutations leading to premature misfolding and degradation of the enzymes. In both NPC and Gaucher disease, as well as other LSDs, mutations lead to misfolding and loss of enzyme functions involved in the breakdown and recycling of critical cellular components within the cells recycling centers, the lysosomes. Our research in LSDs focuses on the natural cellular machinery that helps proteins to remain folded in their active state. In particular, we are evaluating HSP family members called HSP70. By amplifying the production of HSPs, this pathological cascade can be addressed by rescuing the function of the recycling enzymes and helping them perform better in the lysosomes.
The U.S. Food and Drug Administration (FDA) has accepted our new drug application (NDA) for arimoclomol for the treatment of NPC and designated it for priority review, with a target action date of June 17, 2021 under the Prescription Drug User Fee Act (PDUFA). We submitted a marketing authorization application to the European Medicines Agency (EMA) for NPC in November 2020.
In a Phase 2 study in neurological Gaucher disease Type 1 and Type 3, arimoclomol demonstrated marked improvements in key clinical markers including liver and spleen size.
