Niemann-Pick type C is a rare inherited disease. The genetic mutations of this type cause cholesterol and other fats to accumulate in the liver, spleen or lungs. The brain is eventually affected too.

What is Niemann-Pick Type C?

Niemann-Pick type C is a rare inherited disease. The genetic mutations of this type cause cholesterol and other fats to accumulate in the liver, spleen or lungs. The brain is eventually affected too.

What does miglustat treat?

Miglustat is used to treat Gaucher disease type 1 (a condition in which a certain fatty substance is not broken down normally in the body and instead builds up in some organs and causes liver, spleen, bone, and blood problems). Miglustat is in a class of medications called enzyme inhibitors.

What is Niemann-Pick disease?

Niemann-Pick disease type C (NPC) is a rare progressive genetic disorder characterized by an inability of the body to transport cholesterol and other fatty substances (lipids) inside of cells. This leads to the abnormal accumulation of these substances within various tissues of the body, including brain tissue.

How common is it to be a carrier of Niemann-Pick disease?

With each pregnancy, carrier parents have a 25 percent chance of having a child with Niemann-Pick disease (inheriting two copies of the abnormal gene). Carrier parents have a 50 percent chance of having a child who is an unaffected carrier, and a 25 percent chance of having an unaffected, non-carrier child.

Are there any treatments for Niemann-Pick disease?

No cure exists for Niemann-Pick disease. No effective treatment is available to people with type A or B. For people with mild to moderate type C, a drug called miglustat (Zavesca) may be an option.

Is Niemann-Pick disease curable?

How common is Niemann-Pick type C?

Combined, Niemann-Pick disease types C1 and C2 are estimated to affect 1 in 150,000 individuals; however, type C1 is by far the more common type, accounting for 95 percent of cases.

Who makes Zavesca?

Miglustat, sold under the brand name Zavesca, is a medication used to treat type I Gaucher disease (GD1). It is also known as N-butyldeoxynojirimycin, and is a derivative of the anti-diabetic 1-deoxynojirimycin. It was developed by Oxford GlycoSciences and is marketed by Actelion.

How common is Niemann-Pick disease?

Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of 1/120 000 live births. The broad clinical spectrum ranges from a neonatal rapidly fatal disorder to an adult-onset chronic neurodegenerative disease.

Does Pick’s disease run in families?

The course of the disease varies from person to person. The underlying cause of Pick’s disease is unknown. In some cases, the disease runs in families. While there is no treatment to slow the progression of the disease, medications can be used to treat individual symptoms.