Niemann-Pick Disease
NIH scientists began a clinical trial in January 2013, to test whether the drug cyclodextrin could be used as a possible treatment for a rare and fatal genetic disease, called Niemann-Pick disease type C1 (NPC). Scientists from the NIH’s National Center for Advancing Translational Sciences (NCATS) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) are conducting the clinical trial at the NIH Clinical Center. Reaching this stage required collaboration among government, industry, patient advocacy groups and academic researchers. In the image on the left, fibroblasts homozygous for mutations in NPC1 demonstrate an increased accumulation of red Lysotracker staining indicative of the storage disease. On the right, addition of cyclodextran rescues this lysosomal storage defect.
Credit: National Center for Advancing Translational Sciences (NCATS), National Institutes of Health
Niemann-Pick Disease
NIH scientists began a clinical trial in January 2013, to test whether the drug cyclodextrin could be used as a possible treatment for a rare and fatal genetic disease, called Niemann-Pick disease type C1 (NPC). Scientists from the NIH’s National Center for Advancing Translational Sciences (NCATS) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) are conducting the clinical trial at the NIH Clinical Center. Reaching this stage required collaboration among government, industry, patient advocacy groups and academic researchers. In the image on the left, fibroblasts homozygous for mutations in NPC1 demonstrate an increased accumulation of red Lysotracker staining indicative of the storage disease. On the right, addition of cyclodextran rescues this lysosomal storage defect.
Credit: National Center for Advancing Translational Sciences (NCATS), National Institutes of Health