What is Niemann-Pick Type C?

Niemann-Pick Type C (NPC) is a rare, autosomal recessive genetic disorder caused by the lack of transport of cholesterol and other lipids throughout the cells of the body. This can lead to an accumulation of these lipids within body tissue and subsequent damage. NPC tends to vary significantly with each individual case, and can range from a fatal disorder from birth or remain undetected through adulthood. There are 2 subtypes of NPC, each stemming from the mutations in different genes.

Prevalence

The prevalence rate is estimated to be approximately of 1 out of 120,000 live births.

Subtypes of NPC

There are two subtypes of NPC, each stemming from the location of the mutation on the gene:

Causes

Niemann-Pick Type C affects individuals who have a mutation in either the NPC1 (most common) or NPC2 gene. NPC1 is located on chromosome 18, and NPC2 is located on chromosome 14. The protein products of both genes are involved in the movement of cholesterol and other lipids within cells, and when the genes are mutated, there is not enough production of functional proteins within the body. This leads to an accumulation of cholesterol in tissues like the liver, spleen, and brain. Eventually, this manifests in the observable symptoms of NPC. 

Symptoms

Symptoms can have a different age of onset for each individual.

Perinatal:

Early Infantile (3 months to <2 years): 

Late Infantile (2 to <6 years):

Juvenile (6 to <15 years) (most symptoms are similar to late infantile period): 

Adult (15+ years):

Current Treatments

There are currently no FDA approved treatments. Existing therapies focus on managing specific symptoms, including anti-seizure and antidepressant medications, and regular checkups/therapy with a variety of specialists. This brings to light a great need for new and effective investigational therapies, including stem cell transplantation and investigative gene therapy trials.   

 

Recommended Resources

U.S. National Library of Medicine

Mayo Clinic

National Niemann-Pick Disease Foundation

Firefly Fund

 

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