NIH researchers show how investigational drug works against rare, fatal genetic disease

Scientists have demonstrated how an investigational drug works against a rare, fatal genetic disease, Niemann-Pick type C1 (NPC1). They found that a closely related compound will activate an enzyme, AMPK, triggering a cellular "recycling" system that helps reduce elevated cholesterol and other accumulated fats in the brains and livers of NPC1 patients, which are hallmarks associated with severe neurological problems. The research was led by scientists at the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health, and their colleagues.