Niemann-Pick disease (NP) refers to a group of inherited metabolic disorders known as lipid storage diseases. Lipids (fatty materials such as waxes, fatty acids, oils, and cholesterol) and proteins are usually broken down into smaller components to provide energy for the body. In Niemann-Pick disease, harmful quantities of lipids accumulate in the spleen, liver, lungs, bone marrow, and the brain. Symptoms may include lack of muscle coordination, brain degeneration, eye paralysis, learning problems, loss of muscle tone, increased sensitivity to touch, spasticity, feeding and swallowing difficulties, slurred speech, and an enlarged liver and spleen. There may be clouding of the cornea and a characteristic cherry-red halo develops around the center of the retina. The disease has 4 related types. Type A, the most severe form, occurs in early infancy. It is characterized by an enlarged liver and spleen, swollen lymph nodes, and profound brain damage by six months of age. Children with this type rarely live beyond 18 months. Type B involves an enlarged liver and spleen, which usually occurs in the pre-teen years. The brain is not affected. In types A and B, insufficient activity of an enzyme called sphingomyelinase causes the build up of toxic amounts of sphingomyelin, a fatty substance present in every cell of the body. Types C and D may appear early in life or develop in the teen or adult years. Affected individuals have only moderate enlargement of the spleen and liver, but brain damage may be extensive and cause an inability to look up and down, difficulty in walking and swallowing, and progressive loss of vision and hearing. Types C and D are characterized by a defect that disrupts the transport of cholesterol between brain cells. Type D usually occurs in people with an ancestral background in Nova Scotia. Types C and D are caused by a lack of the NPC1 or NPC 2 proteins.
There is currently no cure for Niemann-Pick disease. Children usually die from infection or progressive neurological loss. There is currently no effective treatment for persons with type A. Bone marrow transplantation has been attempted in a few patients with type B, and encouraging results have been reported. The development of enzyme replacement and gene therapies might also be helpful for those with type B. Individuals with types C and D are frequently placed on a low-cholesterol diet and/or cholesterol lowering drugs, but research has not shown these interventions to change the abnormal cholesterol metabolism or halt disease progression..
Infants with type A die in infancy. Children with Type B may live a comparatively long time, but may require supplemental oxygen because of lung impairment. The life expectancy of persons with types C and D varies: some individuals die in childhood while others, who appear to be less severely affected, can live into adulthood.
The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH), conducts research about Niemann-Pick disease in laboratories at the NIH and also supports additional research through grants to major research institutions across the country. Investigators at the NINDS have identified two different genes that, when defective, contribute to Niemann-Pick disease types C and D. A current NIH study is testing hydropropyl beta cyclodextin to see if it is safe to use in helping brain cells better process cholesterol.
View a list of studies currently seeking patients.
View more studies on this condition.
Ara Parseghian Medical Research Foundation
[For Niemann-Pick Type C Disease]
Funds research projects that will lead to a treatment for Niemann-Pick Type C and other pediatric neurological diseases and cholesterol metabolism disorders.
3530 East Campo Abierto
Tucson, AZ 85718-3327
National Niemann-Pick Disease Foundation, Inc.
International nonprofit organization made up of parents, medical and educational professionals, friends, relatives, and others.
P.O. Box 49
401 Madison Avenue, Suite B
Ft. Atkinson, WI 53538
National Tay-Sachs and Allied Diseases Association
The mission of the National Tay-Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.
2001 Beacon Street
Boston, MA 02135
Tel: 800-90-NTSAD (906-8723)