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.

Discover AQNEURSA

Important Safety Information
Do not take AQNEURSA if you:
  • have not had a negative pregnancy test. If you become pregnant while taking AQNEURSA, inform your doctor immediately to discuss potential risks and alternative treatments
Before taking AQNEURSA, discuss with your doctor if you:
  • are pregnant or planning to become pregnant. Based on findings from animal reproduction studies, AQNEURSA may cause harm to your unborn baby when administered during pregnancy. If you become pregnant while taking AQNEURSA, inform your doctor immediately to discuss potential risks and alternative treatments.
  • require the need for effective contraception during treatment with AQNEURSA and for 7 days after stopping treatment to avoid pregnancy.
  • are breastfeeding or plan to breastfeed. It is not known if AQNEURSA or its metabolites pass into human or animal milk or effects on breastmilk production
  • are taking P-gp substrate. Your doctor will monitor you for related adverse reactions
  • have any other medical conditions
  • are taking any medications and supplements, including N-acetyl-DL-leucine or N-acetyl-D-leucine, as some of these may impact the effectiveness of AQNEURSA

The most common side effects of AQNEURSA include abdominal pain, dysphagia, upper respiratory tract infections and vomiting. Speak with your doctor if these side effects persist or worsen.

Take AQNEURSA exactly as prescribed by your doctor.

If a dose of AQNEURSA is missed, skip the missed dose and take the next dose at the scheduled time. Do not take 2 doses at the same time to make up for a missed dose.

AQNEURSA can be taken with or without food.

You are encouraged to report negative 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

Do not take AQNEURSA if you:

  • have not had a negative pregnancy test. If you become pregnant while taking AQNEURSA, inform your doctor immediately to discuss potential risks and alternative treatments

Before taking AQNEURSA, discuss with your doctor if you:

  • are pregnant or planning to become pregnant. Based on findings from animal reproduction studies, AQNEURSA may cause harm to your unborn baby when administered during pregnancy. If you become pregnant while taking AQNEURSA, inform your doctor immediately to discuss potential risks and alternative treatments.
  • require the need for effective contraception during treatment with AQNEURSA and for 7 days after stopping treatment to avoid pregnancy.
  • are breastfeeding or plan to breastfeed. It is not known if AQNEURSA or its metabolites pass into human or animal milk or effects on breastmilk production
  • are taking P-gp substrate. Your doctor will monitor you for related adverse reactions
  • have any other medical conditions
  • are taking any medications and supplements, including N-acetyl-DL-leucine or N-acetyl-D-leucine, as some of these may impact the effectiveness of AQNEURSA

The most common side effects of AQNEURSA include abdominal pain, dysphagia, upper respiratory tract infections and vomiting. Speak with your doctor if these side effects persist or worsen.

Take AQNEURSA exactly as prescribed by your doctor.

If a dose of AQNEURSA is missed, skip the missed dose and take the next dose at the scheduled time. Do not take 2 doses at the same time to make up for a missed dose.

AQNEURSA can be taken with or without food.

You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch, or call 1-800-FDA-1088 .

Indication

AQNEURSA™ (levacetylleucine) is indicated for the treatment of neurological manifestations of Niemann-Pick disease type C (NPC) in adults and pediatric patients weighing ≥15 kg.

Please click here for Full Prescribing Information for AQNEURSA.