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New Tests for Evaluating Effects of Treatments for Rare, Fatal Disease

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Niemann-Pick disease type C1 is a rare, inherited disease characterized by progressive impairment of motor and intellectual functions in early childhood. The disease makes it impossible for the body to properly transport cholesterol and other fats (lipids) within cells, causing these compounds to build up in the liver, brain, and spleen and to affect the organs’ functioning. A child who shows signs of this disease before age 1 may not live to school age. School-age children who show symptoms may live into their mid-to-late teens. A few live into their 20s. No drugs approved by the U.S. Food and Drug Administration are available to reverse or prevent the disease, although a drug called miglustat is approved in other countries and may help to stabilize the disease’s effects. 

The search for new treatments could be aided if simple blood tests for certain molecules—called biomarkers—were available to monitor disease progression and effects of therapies. In a recent study, researchers in the Section on Molecular Dysmorphology, within the Division of Intramural Research Program on Developmental Endocrinology and Genetics, tested a variety of proteins in a mouse model and found two types of proteins that may be useful biomarkers. The levels of the proteins increased in mice with more severe disease. 

The researchers believe the new biomarker blood tests may be useful in an ongoing NICHD-sponsored phase 1 trial checking the effectiveness of a treatment for Niemann-Pick disease type C1 (PMID: 22619379).

Last Reviewed: 06/24/2014
Vision National Institutes of Health Home BOND National Institues of Health Home Home Storz Lab: Section on Environmental Gene Regulation Home Machner Lab: Unit on Microbial Pathogenesis Home Division of Intramural Population Health Research Home Bonifacino Lab: Section on Intracellular Protein Trafficking Home Lilly Lab: Section on Gamete Development Home Lippincott-Schwartz Lab: Section on Organelle Biology