AUG 13, 2017 12:52 PM PDT

Experimental Drug Slows Progression of Rare Genetic Disease

WRITTEN BY: Carmen Leitch

Researchers have identified a drug that has slowed the progression of a rare genetic disease in clinical trials. A fatal neurological disorder primarily affecting young people, Niemann-Pick disease type C1 (NPC1) is a degenerative disease in which cognitive and neurological functions progressively decline. The new work has been reported in the Lancet and is described in the following video.

The National Institutes of Health (NIH) is working with Sucampo Pharmaceuticals to cooperate on the development of the new drug, 2-hydroxypropyl-beta-cyclodextrin (VTS-270). A clinical trial compared two groups: one with 14 participants from four to 23 years old who received the drug once a month for 12 to 18 months, and another group of three who got the drug every two weeks for 18 months. Once it was seen that the more frequent doses were well tolerated, doses were increased for the other participants. The results were compared to the progress of patients in a previous study.

“The results are very encouraging and support continued development of VTS-270 for treating NPC1,” said Forbes D. Porter, M.D., Ph.D., clinical director at NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the study’s senior author. “Compared to untreated patients we followed in an earlier study, participants who received VTS-270 scored better on a scale used to evaluate disease severity and progression, including elements such as speech, cognition, and mobility.”

The drug did not increase adverse outcomes for participants, although some patients with hearing loss did experience more hearing loss after treatment. Hearing aids were used to help these patients, and they could go on with a normal life.

Niemann-Pick disease type C1, a lipid storage disorder, as seen in a mouse cerebellum / Credit: NICHD

NPC1 causes a buildup of cholesterol in brain cells, resulting in the disease symptoms. The investigators thus assessed cholesterol metabolism in the study participants’ central nervous system and found a cholesterol metabolite. That suggested that the drug is improving the cholesterol metabolism dysfunction carried by the patients. The levels of two other molecules indicated that there was likely less damage occurring in the brain as well.

Patient neurological assessments demonstrated that the drug was slowing disease progression. Because of these encouraging results, the scientists are seeking to move on to another clinical trial, already approved by the FDA, to find the symptoms that the drug is targeting, and to refine the dosage. The ultimate goal, of course, is to bring this drug to all NPC1 patients who could benefit from it.


Sources: NIH, The Lancet

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Bachelor's (BA/BS/Other)
Experienced research scientist and technical expert with authorships on over 30 peer-reviewed publications, traveler to over 70 countries, published photographer and internationally-exhibited painter, volunteer trained in disaster-response, CPR and DV counseling.
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