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
Top-line results reported on March 29, 2021; did not meet primary and secondary endpoints in IBM
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.
NEUROMUSCULAR DISEASES may occur as a consequence of protein misfolding, which is a hallmark of many neurodegenerative diseases. Two neuromuscular diseases – Inclusion Body Myositis (IBM) and Amyotrophic Lateral Sclerosis (ALS) – are debilitating rare diseases with limited or no current treatments. Amplifying the production of HSPs may help restore balance, repair the dysfunctional protein processing and clear protein aggregation.
We are researching arimoclomol in four indications: Amyotrophic Lateral Sclerosis (ALS), Gaucher disease, Niemann-Pick disease type C (NPC), and Inclusion Body Myositis (IBM).
To learn more about our clinical trials go to https://www.clinicaltrials.gov/
Orphazyme has an Early-Access Program (EAP) in the United States, 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.