A simple blood test can now help detect a fatal genetic disorder that generally takes years to get diagnosed. Researchers at Washington University School of Medicine in St. Louis and the National Institutes of Health (NIH) conducted the study to test for patients suffering from Niemann-Pick type C (NPC) disease.

"NPC is a horrible disease that is easy in its early stages to mistake for other conditions, both because it's so rare and because it has so many different manifestations," said senior author Daniel S. Ory, MD, professor of medicine and of cell biology and physiology at Washington University School of Medicine in St. Louis. "This is an important step forward both in terms of making a definitive diagnosis much easier and in terms of providing us with a way to quickly assess the effectiveness of experimental treatments."

The study may also help scientists understand health problems in people who are carriers of the disorder. "What we learn from studying rare diseases often can be very helpful not only for patients with those rare disorders, but also for efforts to treat much more common conditions," he added.

NPC is generally demonstrated with various symptoms including difficult in swallowing, slurring of speech and walking problems in children. Dementia, immobilizing patients and later death are distinct possibilities in adults.
Lysosomal storage disorder is an inherited disease to which LPC belongs. Daniel S. Ory and his colleagues experimented on a mouse model and showed that the disease causes a buildup in cells of cholesterol. This can further undergo a chemical transformation known as oxidation, which is in turn dangerous to cells making cholesterol chemically reactive.

"These markers have all the characteristics we wanted for a clinical test, and we're now working to develop it into a clinical assay," Daniel S. Ory said. "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.

"Early detection of NPC pre symptomatic treatment can improve the quality of life and quantity of life. "We're not sure we fully appreciate the impact of this disease, which may be more common than we think," he explained. "It could be very helpful to get a better handle on that via neonatal screening."