Niemann-Pick Disease Type C

Niemann-Pick disease type C is caused by a rare genetic mutation that prevents the body from properly processing cholesterol.

Remarkable Care for Kids

  • Leaders in pediatric neurology: Leading clinician-researchers in pediatric neurology at Rush are dedicated to finding new approaches and treatments for rare neurologic diseases in children, including Niemann-Pick disease type C.
  • Access to clinical trials: Through a clinical trial, Rush is the first center in the Midwest, and one of only eleven in the U.S., currently screening patients and offering VTS-270, a new drug being studied as a possible way to slow the progression of Niemann-Pick disease type C.
  • Genetic testing and counseling: The Section of Genetics at Rush provides genetic counseling, testing and support for families facing genetic disorders like Niemann-Pick disease type C.

What is Niemann-Pick disease type C?

Niemann-Pick disease type C is a serious neurologic condition that causes progressive mental and physical decline in children.

This rare genetic condition is most often diagnosed in mid-childhood, although it can begin to affect patients at any age from birth to the 70s. In many cases there are no signs of the condition when the child is born. Niemann-Pick disease type C is estimated to affect about one in every 100,000 children.

Niemann-Pick type C: what you should know

  • Brain cells are particularly sensitive to abnormal cholesterol processing, and this mutation slowly but steadily starts destroying the nervous system.
  • Children with Niemann-Pick disease type C struggle with movement and gradually lose the ability to speak and eventually the ability to think.

Symptoms of Niemann-Pick type C

Some early symptoms of Niemann-Pick disease type C include the following:

  • Difficulty looking up and down
  • Trouble with learning
  • Motor disturbances (e.g., loss of balance and trouble writing or manipulating things)
  • Difficulty speaking
  • Seizures
  • Behavioral problems (e.g., attention deficit hyperactivity disorder)
  • Psychosis or depression (e.g., hallucinations, delusions)

Having these symptoms does not necessarily mean your child has Niemann-Pick disease type C. Other conditions have similar symptoms. Your pediatrician and/or a pediatric neurologist at Rush can help you determine the root of the problem and the best course of action.

Care for Niemann-Pick type C at Rush

  • Alleviating symptoms: There is currently no cure for Niemann-Pick disease type C, and there is no FDA-approved treatment to halt the disease’s progression. Instead, treatment typically revolves around alleviating symptoms with medications and complementary therapies that address the following:
    • Seizures
    • Sleep disturbances
    • Mobility issues
    • Communication challenges
    • Feeding problems
  • Clinical trials: Researchers at Rush are leading an effort to find life-changing treatment for this devastating disease. Through a clinical trial, Rush is currently screening patients and offering a drug called VTS-270, which is being developed by Vtesse, a Maryland-based biotech company that focuses on treatments for rare diseases. Early findings indicate that the treatment may slow the rate of progression of the disease.