For patients with Niemann-Pick type C (NPC) disease, the test will make it possible to begin treatment earlier, when it is more likely to improve quality of life and to further extend lives.
"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," says 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."
There is no U.S.-approved treatment for NPC, which is estimated to affect approximately 1 in 100,000 people worldwide. Miglustat, an inhibitor of complex lipid synthesis, is approved for NPC treatment in Europe, Canada, Russia, Brazil and Taiwan.
Insights from the study may also help scientists better understand health problems in people who are carriers of the disorder, which may include 3 million to 6 million in the United States alone. Having a single mutated copy of the NPC 1 or 2 genes does not cause NPC, but the study's results have led scientists to speculate that it may contribute to heart disease, diabetes and other common illnesses.
"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," Ory says.
Ory is co-director of the new Diabetic Cardiovascular Disease Center at Washington University. The interdisciplinary center, which explores the links between diabetes and cardiovascular disease, was established through BioMed 21, a Washington University initiative dedicated to speeding the development of laboratory insights into advances in clinical diagnosis and treatment.
Blood Test May Diagnose Heart Disease
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