Possible Treatment for Niemann-Pick Disease Type C Performs Well in Clinical Trial

According to a story from labiotech.eu, the biotechnology company Orphazyme has been developing an experimental therapy for Niemann-Pick disease type C. In a recent Phase 2/3 clinical trial, the investigational treatment, called arimoclomol, displayed significant promise. After a twelve month treatment period, the drug was able to slow the progression of Niemann-Pick disease type C by 74 percent.

About Niemann-Pick Disease Type C

Niemann-Pick disease type C is a form of lysosomal storage disease which is characterized by a deficiency not in an enzyme, but most typically in a type of transporter protein that prevents water soluble molecules from moving within a cell. It is caused by mutations of either the NPC1 or NPC2 gene. There is broad disparity in the severity and presentation of symptoms in Niemann-Pick disease type C, making symptoms an unreliable method for diagnosis. They may appear in childhood or as late as a patient’s sixth decade of life. Such symptoms include spleen and/or liver enlargement, jaundice, severe depression, ataxia, epilepsy, difficulty speaking and swallowing, dystonia, poor muscle tone, bipolar disorder, microcephaly, progressive loss of hearing, progressive dementia, and psychosis. Most treatment is supportive, but there are some medicines that can delay disease progression and prolong life. Lifespan is connected to the onset of symptoms, with those with the earliest symptoms usually dying sooner. To learn more about Niemann-Pick disease type C, click here.

Treating Niemann-Pick Disease Type C

These encouraging findings have prompted the company to continue the trial in an open label extension for another twelve month period. This will be useful for monitoring arimoclomol’s impact over a longer period of time. At this juncture, a drug called miglustat is the only approved therapy in the EU for the disease. While this therapy is useful in slowing the progression of the illness, it comes with serious and unpleasant side effects like muscle weakness, digestive problems, hand shaking, easy bruising/bleeding, and burning pain or numbness that can affect the arms and legs. Miglustat also failed to gain approval for Niemann-Pick disease type C in the US.

Arimoclomol is also being tested as a therapy for other serious rare diseases. The company began a Phase III trial last summer that will test the medicine as a treatment for amyotrophic lateral sclerosis, a fatal disease that has no approved disease-modifying treatments.


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