Washington University School of Medicine in St. Louis is playing a leading role in one of the National Institutes of Health's (NIH) first clinical trials to improve treatments for rare and neglected diseases.
In this case, the disease is Niemann-Pick Type C, a disorder that causes excess cholesterol to accumulate in the brain, liver and spleen.
It affects about 500 children worldwide, leads to neurodegeneration, and usually causes death in the first two decades of life, reports Science Daily.
The compound to be tested is called cyclodextrin, a cyclic sugar long used as an ingredient in other drugs.
"You probably ingest cyclodextrins all the time and don't realize it," says Daniel S. Ory, MD, professor of medicine and of cell biology and physiology. "It's used as a carrier in many drug formulations because of its ability to solubilise drugs that don't dissolve well in water."
"We've been studying this disease for many years, and we began looking at this drug in earnest about five years ago," Ory says.
"In animal models of NPC, we see significant benefit in both neurological function and survival. It's superior to all other compounds we have tested in the animal models."
Based on successes in animal studies, Ory says cyclodextrin delivered directly to the brain acts as a key to unlock the trapped cholesterol and allows it to redistribute in the cell where it can be properly metabolized and removed.