Copenhagen, June 4, 2018 – Orphazyme A/S, a biopharmaceutical company dedicated to developing treatments for patients living with rare diseases, today announced that Orphazyme is presenting preclinical, clinical, and novel biomarker data on Niemann-Pick disease Type C (NPC) at the 2018 Parseghian Scientific Conference for Niemann-Pick Type C Research in Tucson, Arizona, USA on June 2-4, 2018. 

The data presented will be the top-line results from the multi-center, non-interventional observational trial (NPC-001) on 36 pediatric patients with NPC conducted as a “lead-in” study before they entered the Phase II/III randomized, placebo-controlled interventional trial (NPC-002) with arimoclomol. In addition, preclinical data on heat-shock protein amplification with arimoclomol in NPC will be presented. The highlights of the data presented during the conference are as follows: 

  • NPC-Clinical Severity Score (NPC-CSS) used to measure disease progression showed a mean increase of 1.47 per 6 months 

  • An abbreviated 5-domain NPC-CSS was also used to measure disease progression and showed a mean increase in 0.75 per 6 months 

  • The abbreviated 5-domain NPC-CSS was highly correlated to the full 17-domain NPC-CSS 

  • HSP70 levels were shown to be markedly decreased in patients with NPC compared to normal patient controls  

  • Glycosphingolipids and cholesterol-derivatives showed promise as biomarkers of disease, including a novel glycosphingolipid that was shown to be elevated in patients with NPC  

  • New preclinical data supported the unique mechanism of action of arimoclomol in NPC and other sphingolipidoses  

The rate of clinical progression observed in the NPC-001 trial and measured by the NPC-CSS is in line with previously published data and importantly there is a strong correlation between the full NPC-CSS and the abbreviated 5-domain NPC-CSS.”, said Dr. Eugen Mengel, University Medical Center in Mainz, Germany and the Coordinating Principle Investigator for Orphazyme’s clinical NPC trials. 

Results from the NPC-002 trial are expected in Q3 2018.