What Is Niemann-Pick Disease Type C?

Inborn Error of Energy Metabolism

Niemann-Pick disease is a group of rare inherited conditions caused by a faulty gene. Niemann-Pick disease type C (NPC) is a subtype.

Children with NPC lack a protein that the body needs to break down fats and cholesterol within cells. As a result, these substances build up in cells, causing progressive damage to the brain, liver, lungs, and other organs.

Symptoms most often begin to appear between ages 4 and 10.

Children with NPC may have trouble moving their eyes up and down.

Other NPC symptoms may include:

• Jaundice.
• Seizures.
• Breathing problems.

Your Child's NPC Consult and Care: What to Expect

If your child has NPC, we want you to know you’re not alone. The Center for Rare Disease Therapy (CRDT) at UPMC Children’s Hospital of Pittsburgh is here to help.

To make an appointment for your child or refer a patient for NPC care, contact us by:

• Phone at 412-692-7273.
• Email at rarecare@chp.edu.

Here’s what you can expect when you come to us for a consult.

How long will my child’s first visit for NPC care take?

Your first visit to the CRDT will take 4 to 6 hours.

What will happen during our first visit to the CRDT?

Your child will have a thorough exam from one of our neurodevelopment rare disease experts. They’ll make or confirm a precise NPC diagnosis and decide how much it’s progressed.

Your child may see other doctors during their first visit, including specialists in:

• Genetic diseases.
• Brain diseases.
• Child development.
• Hearing.
• Physical therapy.

What are the next steps after my child's NPC visit to the Center for Rare Disease Therapy?

Members of your child's care team will talk with you about:

• Likely next steps for your child.
• NPC treatment options.
• Ways to help your child's quality of life at home.

By the end of your visit, you'll have a NPC care plan tailored to your child's needs. We'll also schedule a follow-up visit.

You'll meet our nurse practitioner. You can contact them by phone or video conference with any concerns before your next visit.

Before you leave, please ask us about your child's NPC, treatment, or anything else on your mind.

How long will I need to wait for my child's test results?

You can expect to receive a phone call within 2 weeks to explain test results and discuss next steps.

You can also find your child’s NPC test results on MyCHP, Children's secure patient portal. It’s free for patients, parents, and guardians.

Partners in Your Child's Niemann-Pick Disease Type C Care

A child with a rare disease like NPC affects the whole family. We see each family member as our partner.

The best care happens when we merge our NPC expertise with your insight of your child's needs.

Meet Our Rare Disease Center Patients

Learn how others are finding help and hope for their child’s rare disease through the expertise at UPMC Children’s.

View Center for Rare Disease Therapy patient stories »

Contact Us About Your Child’s NPC

At the CRDT, every child diagnosed with a rare disease receives a tailored treatment plan and family-centered care.

For an appointment, consult, or referral, contact us:

• Phone at 412-692-7273.
• Email at rarecare@chp.edu.
• Fill out our rare disease contact form.

We’ll be in touch within 2 business days.