Joslyn Crowe, Executive Director of the National Niemann-Pick Disease Foundation (NNPDF), talks about the programs the foundation has developed to help families be prepared when treatments get approved for Niemann-Pick disease.
Niemann-Pick disease is a series of rare lysosomal storage disorders in which toxic quantities of lipids accumulate in the spleen, liver, lungs, bone marrow, and brain. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition.
Type A and Type B are caused by mutations in the SMPD1 gene while types C1 and C2 are due to mutations of the NPC1 and NPC2 genes, respectively.
The U.S. Food and Drug Administration is currently reviewing several promising therapeutics to treat Niemann-Pick disease type C.
For more information about this and other lysosomal disorders, go to checkrare.com/lysosomal-storage-disorders/.
