New simple blood test may help diagnose Niemann-Pick type C disease

July 08, 2017

Scientists tested tissue samples in the metabolomics facility of the Diabetic Cardiovascular Disease Center. In NPC patients, two oxidized forms of cholesterol were present at levels nine to 10 times higher than normal. The same markers were not elevated in healthy children and adults or in persons with elevated cholesterol levels, heart disease, diabetes or other forms of lysosomal storage disorders.

"These markers have all the characteristics we wanted for a clinical test, and we're now working to develop it into a clinical assay," Ory says. "We want to make the possibility of testing for NPC much easier for physicians to consider if they see the slightest hints that it might be present."

Given the potential advantages that presymptomatic treatment of NPC may offer, including improved quality of life and extended lifespan, Ory also hopes to get people thinking about the possibility of adding NPC to the recommended neonatal screenings.

"We're not sure we fully appreciate the impact of this disease, which may be more common than we think," he explains. "It could be very helpful to get a better handle on that via neonatal screening."

Although no group that scientists screened had levels of the two key markers as high as the NPC patients, the markers were significantly increased in parents and siblings of NPC patients. Many of these family members have one mutated NPC gene and are carriers of the disease.

"These markers are indicative of an increased level of stress in cells, and this same kind of stress is seen in many other disorders, including heart disease, diabetes and neurodegenerative disorders such as Alzheimer's disease," Ory says. "We need further research to confirm this, but it's possible that some of the same damaging mechanisms that take place in NPC patients may be occurring to a lesser degree in persons who only have one mutated copy of an NPC gene and are putting them at increased risk of other disorders."

If carriers of the disease do have an increased risk of other conditions as a result, new treatments for NPC may also help them, according to Ory.

Source: Washington University School of Medicine