Understanding Niemann-Pick disease type C (NPC)

What is NPC?

Icon representing the genetic aspect of Niemann-Pick disease type C

NPC is a rare genetic disorder that is highly variable from one person to the next.

  • NPC occurs in about 1 in every 100,000 births
  • NPC affects the brain and other parts of the body differently for every affected person
  • NPC that is detected during childhood tends to progress more quickly than NPC diagnosed at older ages
Icon summarizing the symptoms of Niemann-Pick disease type C

Although all people with NPC have it from birth, symptoms may appear in early childhood for some people and later in life for others.

  • NPC may be diagnosed at any age
  • Most cases of NPC are detected during childhood
  • A diagnosis of NPC is confirmed using genetic testing

What are some of the symptoms of NPC?

NPC affects the body and brain in different ways and can have many symptoms.

  • The most common symptoms of NPC include:
    • Difficulties walking and with fine motor skills
    • Trouble with speech and swallowing
    • Problems with the abilities to think, learn, remember, use judgment, and make decisions (known as cognitive impairment)
    • Seizures
  • People with NPC may also have trouble eating, drinking, taking care of themselves, and communicating
  • The symptoms of NPC can worsen over time and can lead to life-threatening complications

If you have NPC, or care for someone who does, you should report any new symptoms or changes in any existing symptoms to the healthcare team, as these may suggest that the disorder is worsening.

Visual representation of the body highlighting areas affected by Niemann-Pick disease type C on desktopVisual representation of the body highlighting areas affected by Niemann-Pick disease type C on mobile

Because the disorder is highly variable, someone with NPC may not have all of these symptoms—everyone is unique.

Helpful tip

If you care for someone who has been diagnosed with NPC, it’s important to know:

  • Which symptoms the person has and what parts of their body are affected
  • How those symptoms can affect their ability to perform daily tasks
  • How to monitor their symptoms to see if they change over time

Remember that caring for someone with NPC can affect your daily life, too—many caregivers report changes in their daily activities.

How are the effects of NPC measured?

Many different types of doctors and healthcare professionals are involved in the treatment of people with NPC. The healthcare team will assess how the brain and body function when NPC is first diagnosed and regularly afterward.

Examples of tests, why they are done, and how often they may be done:

Icon depicting medical history and NPC severity tests done at diagnosis and about every 6 months

Tests done at diagnosis and about every 6 months:

Medical history – to understand and monitor the disease.
NPC severity test – to measure features of the disease and how they change.
Icon depicting testing every 6 to 12 months including physical examination, cognitive, and swallowing progression in NPC patients

Tests done at diagnosis and about every 6 to 12 months:

Physical examination – to monitor for growth and development.
Cognitive tests – to learn how the brain is functioning. Swallowing tests – to check on the ability to swallow.
Icon depicting ears and eye testing recommended every 12 months for ongoing monitoring of NPC

Tests done at diagnosis and every 12 months:

Ear and eye tests – to check on the ability to see and hear.

The healthcare team will determine which tests are right for each person with NPC and/or may order tests not shown on this list.

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Important Safety Information
Before taking AQNEURSA, tell your healthcare provider about all your medical conditions, including if you are pregnant or plan to become pregnant, or are breastfeeding or plan to breastfeed.
  • Based on findings from animal reproduction studies, AQNEURSA may cause harm to your unborn baby when administered during pregnancy.
  • Your healthcare provider will check to make sure you are not pregnant before starting treatment with AQNEURSA.
  • Use effective birth control (contraception) during treatment with AQNEURSA and for 7 days after stopping treatment to avoid pregnancy.
  • If you become pregnant while taking AQNEURSA, inform your healthcare provider immediately to discuss potential risks and alternative treatments.
  • It is not known if AQNEURSA or its metabolites pass into human or animal milk or effect breastmilk production.

Tell your healthcare provider about all the medications you take and if you get any new medications, including prescription and over-the-counter medicines, vitamins, and herbal supplements. Other medicines may cause side effects or affect how AQNEURSA works when used together.

  • Tell your healthcare provider if you are taking certain medications called P-gp substrates, N-acetyl-DL-leucine or N-acetyl-D-leucine. If you are not sure if you are taking these medicines, talk to your healthcare provider or pharmacist.

The most common side effects of AQNEURSA in people treated for Niemann-Pick disease type C include abdominal pain, dysphagia, upper respiratory tract infections and vomiting.

The most common side effects of AQNEURSA in people treated for ataxia-telangiectasia include fall, skin laceration, and urinary tract infection.

These are not all the possible side effects of AQNEURSA. Call your doctor for medical advice about side effects. You are encouraged to report side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch, or call 1-800-FDA-1088 .

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Important Safety Information
Before taking AQNEURSA, tell your healthcare provider about all your medical conditions, including if you are pregnant or plan to become pregnant, or are breastfeeding or plan to breastfeed.
  • Based on findings from animal reproduction studies, AQNEURSA may cause harm to your unborn baby when administered during pregnancy.
  • Your healthcare provider will check to make sure you are not pregnant before starting treatment with AQNEURSA.
  • Use effective birth control (contraception) during treatment with AQNEURSA and for 7 days after stopping treatment to avoid pregnancy.
  • If you become pregnant while taking AQNEURSA, inform your healthcare provider immediately to discuss potential risks and alternative treatments.
  • It is not known if AQNEURSA or its metabolites pass into human or animal milk or effect breastmilk production.

Tell your healthcare provider about all the medications you take and if you get any new medications, including prescription and over-the-counter medicines, vitamins, and herbal supplements. Other medicines may cause side effects or affect how AQNEURSA works when used together.

  • Tell your healthcare provider if you are taking certain medications called P-gp substrates, N-acetyl-DL-leucine or N-acetyl-D-leucine. If you are not sure if you are taking these medicines, talk to your healthcare provider or pharmacist.

The most common side effects of AQNEURSA in people treated for Niemann-Pick disease type C include abdominal pain, dysphagia, upper respiratory tract infections and vomiting.

The most common side effects of AQNEURSA in people treated for ataxia-telangiectasia include fall, skin laceration, and urinary tract infection.

These are not all the possible side effects of AQNEURSA. Call your doctor for medical advice about side effects. You are encouraged to report side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch, or call 1-800-FDA-1088 .