Small clinical trial shows promise for treating rare neurodegenerative disease

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 cholesterol buildup characteristic of NPC can affect organs other than the brain, such as the liver and spleen, but neurological symptoms often first suggest something is amiss. Age of onset varies considerably, but learning delays and clumsiness may emerge in early childhood, followed by progressive loss of brain function, including loss of motor control, hearing, speech and cognition. Most patients with the condition die 10 to 15 years after the onset of symptoms.

In the combined phase one/two clinical trial, 14 NPC patients who were ages 4 to 23 years and showing neurological symptoms were given cyclodextrin, administered into the spinal column once per month for 12 to 18 months. Another three patients were given cyclodextrin in the spinal column every two weeks for 18 months. Since cyclodextrin does not cross into the brain from the bloodstream, the drug must be in injected into the spinal column by lumbar puncture,…

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