Niemann- Pick Disease

Niemann-Pick Disease is one of a group of lysosomal storage diseases that affect metabolism and those are caused by genetic mutations. The most commonly recognized forms are Niemann-Pick Types A and B (ASMD or Acid Sphingomyelinase Deficiency) and Niemann-Pick Disease Type C (NPC).Types A and B will occur when acid sphingomyelinase (ASM) is not properly produced in the body, particularly in the white blood cells. Type C is primarily concerned with the bodys inability to efficiently remove excess cholesterol and other lipids. Without proper breakdown, cholesterol builds up in the spleen and liver, and excessive amounts of other fats accumulate in the brain. Type D usually occurs when the body cannot properly move cholesterol between cells of the brain, and is believed to be a variant of type C. Type E is a rare type of Niemann-Pick disease that occurs in adults. Little is known about this type. This disease mainly causes swollen lymph nodes, brain damage, lung disease, respiratory infections, tremors, neurological problems etc.

Several treatment options, including bone marrow transplants, enzyme replacement therapy, and gene therapy have been used. Research is ongoing to determine the effectiveness of such treatments. A medication called miglustat is currently used to treat type C. Miglustat is classified as an enzyme inhibitor, and works by preventing the body from producing fatty substances (in the case of type C, cholesterol) so that less of it will build up in the body. And there is no treatment for type A and D.Results of a survey shows the extrapolation of Prevalence Rate of Niemann-Pick disease type C2 in United Kingdom is 49 for the estimated total population of 60,270,708There is current research aiming to develop recombinant human acid sphingomyelinase for the potential treatment of NP disease types A and B. A phase 1 clinical trial was completed in 2009. A phase 2 trial is planned.