Niemann-Pick C (NPC)

What is Niemann-Pick C disease?

Niemann-Pick C disease (NPC) is a lysosomal storage disorder. Your body is made up of trillions of individual cells and each cell contains a small part called the lysosome. This is primarily responsible for breaking down and recycling worn out cell components. In Niemann-Pick type C disease a problem with other proteins within the cell affects the ability of the lysosome to perform this very important housekeeping role. Consequently these products build up and become stored in very specific areas of your body. There are many different enzymes in your lysosomes, and deficiencies of each enzyme and other related proteins will cause a different disease. All of these different diseases together are called lysosomal storage disorders.

How will this affect me?

In NPC disease the cells most commonly affected can be found in the brain and the nerves.

This means you may experience or be at risk of the following:

• Tremor
• Difficulty with walking
• Difficulty with balance and co-ordination
• Fatigue
• Speech impairment
• Swallowing difficulties
• Memory problems
• Cognitive decline
• Low mood

The progress of the disease in adults is extremely variable with some people not really noticing any symptoms whilst others are more severely affected.

If you have any questions about the effects and progression of the disease please do ask your doctor or specialist nurse.

Is there any treatment?

NPC specific treatment is currently available in the form of Substrate reduction therapy. All medication is supplied to you directly at home using a specialist medical homecare delivery company.

Substrate reduction therapy

This is a tablet treatment that you take regularly every day. It helps by slowing down the production of the substances you are building up in your cells. This helps your cells to keep on top of the breakdown/recycling process.

How did I get NPC disease?

NPC is a genetic condition which means that you inherited it from your parents.

There are instructions in your genes for making lysosomal enzymes and other related proteins and a small change in your DNA can be enough to stop these from working properly.

You have two copies of every gene, having received one from each parent.

To be affected by NPC you need to have two copies of the gene with the DNA change on it – one from each parent. Only receiving one affected copy means you are a carrier and will not be affected.

Please do talk to your doctor or specialist nurse who can explain this in more detail.

What do I need to do next?

• Do ask your doctor or nurse for more information.
• Do attend your regular appointments with the lysosomal disorders team so that we can ensure you receive the most appropriate care and can keep you informed of any new developments.
• Do report any difficulties you encounter when eating or drinking.

You may find it helpful to contact your patient support group.

Niemann-Pick UK

Tel: 0191 4150693

Email NPUK

Please visit NPUK (opens in a new tab)

Contact us

LDU Box 135, Addenbrooke’s Hospital, Hills Road, Cambridge. CB2 0QQ

Tel: 01223 274634

Email LDU Cambridge

Please visit Lysosomal disorders

Please note the department is open Monday to Friday 08:30-17:00.

If you are unwell outside of these hours you should seek medical advice from your local healthcare team.

If your emergency doctor needs specific advice they should call the hospital switchboard on 01223 245151 and ask for the metabolic consultant on call.