What is Niemann-Pick disease type C (NPC)?

Not an Actual Patient.

About Niemann-Pick disease type C

Gene mutations lead to a buildup of lipids (fats) in the lysosomal cells of the body.

NPC is an ultra-rare genetic neurodegenerative disease that affects an estimated 1 in 100,000 live births
NPC is caused by mutations in either the NPC1 or NPC2 gene resulting in a deficiency of proteins that transport lipids within cells. A mutation in either gene can result in a buildup of lipids in cells of the body causing the lysosomes to not work properly
NPC is heterogeneous, which means there is high variability in how the disease affects each individual including symptom presentation and severity
Individuals who have NPC are born with it, though the age in which symptoms begin to appear can be different for each person
NPC can be diagnosed at any age, and is confirmed through a genetic test

For more information on NPC and MIPLYFFA, download the fact sheet

DOWNLOAD FACT SHEET

What to do if you suspect you or a loved one may have NPC?

Speak to a healthcare provider about your concerns. Conversations may start with a pediatrician or primary care physician and if appropriate, you may be referred to specialists including a neurologist or a geneticist for further evaluation.
During your conversation with a healthcare provider, highlight any potentially relevant symptoms such as:

History of enlarged spleen
History of jaundice
History of seizures
Low muscle tone
Developmental delays including delayed sitting, standing, walking or speech delays

Difficulty tracking movement with the eyes
Clumsiness
Psychiatric symptoms
Cognitive impairment

Following a conversation with a healthcare provider, determine if genetic testing is the right next step to confirm if you or your loved one has NPC

How is the progression of NPC evaluated or assessed?

Healthcare professionals may assess symptoms by focusing on “domains” or areas impacted by NPC within a validated scale or measuring system. The scale includes scores for how serious the symptoms are for an individual, and can measure how they have changed over time.

The R4DNPCCSS is a validated scale for NPC that measures the 4 domains, shown below, that have been identified as some of the most important by NPC expert clinicians, caregivers, and patients, and allows for an assessment of NPC symptom progression.

NPC progression can be identified by observing patterns of symptoms within each domain, on a scale from mild to severe^*

Ambulation symptoms range from clumsiness to wheelchair dependence.

Fine motor skills symptoms range from slight dysfunction to severe muscle impairment.

Swallowing difficulties range from coughing while eating to feeding tube dependence.

Speech symptoms range from slurred or slow speech to no communication.

A 1-category change in any domain, corresponding to a 1- to 2-point change in total score, is considered clinically meaningful.

These scales also provide a way to demonstrate treatment efficacy and see how you or your loved one may be responding to treatment. Download the NPC Assessment Guide for more details.

The symptom score ranges are shown for informational purposes only and are not intended as a clinical tool. Not all domains include 5 levels of scores.

^*A score of 0 is normal for all domains

Learn more about treatment for NPC with MIPLYFFA

LEARN MORE

WHAT is MIPLYFFA [mye-plye’-fah]?

MIPLYFFA is prescription medicine used in combination with a drug called miglustat to treat neurological symptoms of Niemann-Pick disease type C (NPC) in patients 2 years of age and older.

IMPORTANT SAFETY INFORMATION

Before starting MIPLYFFA, tell your healthcare provider about all your medical conditions, including if you are pregnant or plan to become pregnant, breastfeeding or plan to breastfeed.

Tell your healthcare provider about all the medicines you take, including any prescription and over-the-counter medicines, vitamins, or herbal supplements. MIPLYFFA may affect how other medicines work.

What are the possible side effects of MIPLYFFA?

MIPLYFFA may cause serious side effects including:

Hypersensitivity reactions. Call your healthcare provider immediately if you get any of the following symptoms:
- urticaria (hives),
- shortness of breath,
- persistent cough, or
- facial swelling
Harm to your unborn baby. If you are of childbearing age, take precautions to prevent pregnancy. Tell your healthcare provider right away if you become pregnant or think you might be pregnant during treatment with MIPLYFFA.
Infertility. MIPLYFFA may affect your ability to have children.

The most common side effects of MIPLYFFA in patients also taking miglustat include upper respiratory tract infection, diarrhea and decreased weight.

These are not all the possible side effects of MIPLYFFA. Call your HCP 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.

Drug Interactions: MIPLYFFA can cause side effects if used together with certain drugs called OCT2 substrates. Talk to your healthcare provider about any drugs that you may be taking for other conditions.

MIPLYFFA capsules for oral use are available in the following strengths in a 90-count bottle: 47 mg, 62 mg, 93 mg, and 124 mg.

For more information, please see the Prescribing Information, including Instructions for Use.

IMPORTANT SAFETY INFORMATION

Before starting MIPLYFFA, tell your healthcare provider about all your medical conditions, including if you are pregnant or plan to become pregnant, breastfeeding or plan to breastfeed. Tell your healthcare provider about all the medicines you take, including any prescription and over-the-counter medicines, vitamins, or herbal supplements. MIPLYFFA may affect how other medicines work.... Continue Reading