Results of a small clinical trial show promise for treating a rare neurodegenerative condition that typically kills those afflicted before they reach age 20. The disease, called Niemann-Pick type C (NPC), causes cholesterol to build up in neurons, leading to a gradual loss of brain function. In the drug trial, researchers have shown that treatment with a type of sugar molecule called cyclodextrin slows progression of the disease.
The study, led by researchers at Washington University School of Medicine in St. Louis and the Eunice Kennedy Shriver National Institute of Child Health and Human Development of the National Institutes of Health (NIH), is published Aug. 10 in The Lancet.
“We were surprised to see evidence that this therapy could slow progression of the disease and, in some cases, get back some function — speech in particular,” said first author Daniel S. Ory, MD, the Alan A. and Edith L. Wolff Professor of Cardiology at Washington University School of Medicine in St. Louis. “In a neurodegenerative disease, therapies can’t recover neurons that have died. But if some brain cells are dysfunctional rather than dead, it seems this drug can recover some of that function.”
The findings are a result of efforts by the National Center for Advancing Translational Sciences of the NIH to find new treatments for rare and neglected diseases. NPC affects about one in 100,000 births, though Ory noted the disease is underdiagnosed and genetic studies suggest a true incidence of closer to one in 40,000 births.
The original article was published by Washington University School of Medicine: Drug trial shows promise for deadly neurological disorder