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 Niemann-Pick disease type C (NPC), 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.
In July 2020, we completed the rolling submission of a new drug application (NDA) to the U.S. Food and Drug Administration (FDA) for arimoclomol for the treatment of NPC. In June 2021, the FDA issued a Complete Response Letter (CRL) following its review of the NDA. Orphazyme remains committed to assessing a path forward for arimoclomol in the U.S.
We submitted a marketing authorization application to the European Medicines Agency (EMA) for NPC in November 2020.
