A CROSS-SECTIONAL SURVEY STUDY IN PATIENTS WITH NIEMANN-PICK B DISEASE

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This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Niemann-Pick disease is a rare lysosomal storage disorder that was first described in 1914. Since this original description, five clinical forms have been delineated and more than 300 cases have been reported. Each Niemann-Pick subtype accumulates sphingomyelin, cholesterol, and various glycosphingolipids and gangliosides predominantly within cells of the macrophage/monocyte system. There is currently no "standard of care" treatment for the disease, and symptoms are managed with supportive measures. The objective of this survey is to collect normative data and genotype information from patients with Niemann-Pick B disease that can be used to : 1) determine if there are genotype-phenotype correlations that predict clinical severity, and that may be useful in the selection of subjects for future therapeutic trials; and 2) improve the design of future clinical trials to evaluate the safety and efficacy of rhASM in patients with Niemann-Pick B disease.