PHILADELPHIA — Niemann-Pick Type C disease is a rare and incurable neurological disorder that affects 500 children worldwide. Presently, there are no therapies approved by the U.S. Food and Drug Administration to treat NPC.

But Charles Vite, an associate professor in neurology and neurosurgery in the Department of Clinical Studies at the University of Pennsylvania School of Veterinary Medicine, is hopeful that this will soon change.

Late last month, a clinical trial began at the National Institutes of Health to test a potential drug called cyclodextrin to treat NPC in children. Research by Vite and colleagues at Penn Vet paved the way for this Phase 1 trial, which offers hope for helping both humans and animals who suffer from NPC.

The disease is caused by the accumulation of excessive amounts of cholesterol in the liver, spleen and brain. It is often considered an Alzheimer’s-like disease in children, who experience progressive impairment of motor and intellectual function and have life expectancies of less than 20 years. NPC also occurs naturally in many animal species, including cats and mice.

The collaborations that led to this clinical trial began seven years ago when Vite partnered with scientists from the medical school at the University of California, San Francisco; the Albert Einstein College of Medicine in the Bronx; and the University of Texas Southwestern Medical Center in Dallas.

“The goal of developing a safe and effective therapy for NPC depended on strong private (frequently from parents with affected children), corporate, intramural and national funding of many labs,” he said.

To complement the work of his collaborators, who were studying a potential drug for NPC in mice, Vite and colleagues at Penn Vet studied cats with NPC. Initial results were disappointing. But over time the team came to the unexpected realization that cyclodextrin, the substance they used to dissolve the original drug, was actually the effective agent.

“Cats with NPC who were treated with cyclodextrin are alive and well at over 2 years of age,” Vite said. “It works wonderfully.”

Based on this discovery, the Therapeutics for Rare and Neglected Diseases program in NIH's National Center for Advancing Translational Sciences facilitated a collaboration to advance research on cyclodextrin. Vite teamed with researchers from NIH, Washington University in St. Louis, Johnson & Johnson Pharmaceuticals and others to fine tune the results.

Penn Vet researchers discovered an effective route of drug delivery, allowing cyclodextrin to reach the nervous system through the spinal fluid. The NIH clinical trial will use this method to deliver cyclodextrin to children.

Though this trial will only look at cyclodextrin as a treatment for NPC, research also shows signs that the drug may also serve as possible treatment for Alzheimer’s disease.

“It doesn’t get any better than finding something that treats animals and then will go on to treat kids,” Vite said. “That’s the holy grail. That’s what keeps us going. And we are really excited about it.”

Support for the Penn Vet research came from NIH through an R01 and a National Research Resources Center grant, the Ara Parseghian Medical Research Foundation, the Dana’s Angels Research Trust, the Race for Adam Foundation, the National Niemann-Pick Disease Foundation, Support of Accelerated Research for NPC, Johnson and Johnson and families of affected children.