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.
U.S. FDA accepted New Drug Application (NDA) for review; Submitted MAA (EU) 2020
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.
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.
Orphazyme conducted a Phase 2/3 pivotal study of arimoclomol in Inclusion Body Myositis (IBM). Topline results of the study were reported on March 29, 2021; the study did not meet its primary or secondary endpoints. Orphazyme is conducting additional analyses and expects to conclude the study at the appropriate time in the near future.
Orphazyme conducted a Phase 3 pivotal study of arimoclomol in Amyotrophic Lateral Sclerosis (ALS). Topline results of the study were reported on May 7, 2021; the study did not meet its primary or secondary endpoints. Orphazyme is conducting additional analyses and expects to conclude the study at the appropriate time in the near future.
We are researching arimoclomol in two indications: Niemann-Pick disease type C (NPC) and Gaucher disease.
To learn more about our clinical trials go to https://www.clinicaltrials.gov/
Orphazyme has an Early Access Program (EAP) in France and Germany for people living with Niemann-Pick disease type C (NPC). EAPs are sometimes referred to as Expanded Access Programs, compassionate use or similar locally defined pre-approval access programs. We expect the EAP to remain open until the investigational treatment arimoclomol becomes commercially available in these markets.