Niemann-Pick Type C Disease

Niemann-Pick Disease (NP) refers to a group of rare inherited lipid storage diseases in which harmful quantities of fatty substances (lipids) accumulate in the spleen, liver, lungs, bone marrow, and the brain.

Niemann-Pick, Type C (NP-C) is one of these genetic diseases and can occur in any community. It causes abnormal accumulation of cholesterol in cells of the body. Symptoms of NP-C include deterioration of memory and balance, seizures, lung and liver failure. The disease usually appears in early childhood. Currently, there is no cure, but supportive therapies are available and research is advancing.

The Ara Parseghian Medical Research Foundation supports research at the University of Notre Dame, which is seeking new understanding and treatments for NP-C disease. To read about the Notre Dame - Parseghian Partnership, visit the Notre Dame Science Niemann-Pick Type C Research pages.

The Center for Rare and Neglected Diseases is participating in the NIH's NP-C Natural History Study in collaboration with Dr. F.D. Porter and Nicole Yanjanin, M.S.N. through the successive BIOS courses led by Professor Kasturi Haldar. These classes are contributing to the development of a clinical score for NP-C. The Clinical Severity Scale helps clinicians and researchers quantify disease progression, correlate potential biomarkers with disease status, and provide long-term outcome measures to evaluate therapeutic efficacy. A paper on this unique course was authored by the students and course instructors was published in 2011 by the prestigious open access journal, PLoS One. Link to: PL0S One and the CRND course article, 'Defining Natural History...'