Experimental Treatment for Niemann-Pick Disease Type C1 Appears Safe, Effective

An experimental drug appears to slow the progression of Niemann-Pick disease type C1 (NPC1), a fatal neurological disease, according to results of a clinical study led by researchers at NIH. The study appears in The Lancet.

NPC1 is a rare genetic disorder that primarily affects children and adolescents, causing a progressive decline in neurological and cognitive functions. The Food and Drug Administration has not approved any treatments for the condition.

The drug, 2-hydroxypropyl-beta-cyclodextrin (VTS-270), is being tested under a cooperative research and development agreement between NIH and Sucampo Pharmaceuticals, Inc. In April 2017, Sucampo acquired Vtesse Inc., which previously had been developing VTS-270.

“The results are very encouraging and support continued development of VTS-270 for treating NPC1,” said Dr. Forbes Porter, clinical director at NICHD and the study’s senior author. “Compared to untreated patients we followed in an earlier study, participants who received VTS-270 scored better on a scale used to evaluate disease severity and progression, including elements such as speech, cognition and mobility.”

The researchers did not observe any serious adverse outcomes related to the drug. However, the participants, most of whom had already experienced hearing loss because of the disease, had additional hearing loss after treatment. Earlier studies had shown that the treatment carries the risk for hearing loss. In the current study, hearing loss was compensated with hearing aids, which enabled participants to go about their daily lives.