Learn About Niemann-Pick Type C

Niemann-Pick Type C (NPC) is a fatal genetic disorder mostly affecting children, approximately 1:100,000 births. There is no cure. It's commonly referred to as "Childhood Alzheimer's"

How do you get NPC?

Everyone has two NPC genes that, if working correctly, help cells move and dispose of naturally occurring cholesterol in the body. In most people, both of these genes work properly. In NPC carriers, only one gene works normally. Because carriers are symptom free, we had no idea Marian was at risk. Should both parents carry a faulty gene, there is a 1 in 4 chance their child will suffer from NPC.

What happens next? 

NPC children can be born with liver damage but are usually born healthy and are without symptoms. However,  as cells aren't able to process enough materials, it gradually builds up, which usually enlarges the spleen and/or liver as an early warning sign. As the build up continues, it becomes toxic to the body and brain causing early symptoms, then debilitating disabilities, then death. 


What will NPC do to Marian and other children without a cure?


Months or years after an enlarged spleen and/or liver develop, neurological symptoms unfold as the disease progresses. An active child slowly begins struggling with balance and coordination: falling down progresses to an inability to walk, sit, lift the arms, nod the head, and finally the heartbreak of not being able to move at all. Difficulty in swallowing will follow, leading to choking and feeding tubes, frequent hospitalizations and vulnerability to pneumonia.

Forgetfulness will begin and will lead to learning delays—children forget how to read, how to write, and patients can forget when they've eaten and where they are.


Dementia will follow. Speech becomes slurred and slips away over time. Hearing loss develops and worsens, and the child's ability to control eye movement fails. Seizures will then develop, some so frequent they run together—for days on end. Ultimately, NPC children endure years of suffering as their bodies, mobility, speech, and memory fails them, despite everything they are doing to hold on. 

We Need Your Help: Time Is of the Essence 

NPC is always fatal. Without help, Marian and half of NPC children won't live to see age 10. The earlier neurological symptoms begin, the more aggressive the disease. Early diagnosis is essential and for the first time investigational treatments can help the body flush and slow the build up in cells. 

There is hope but it is urgent.Each day of delay is an additional day of risk for these vulnerable children. The missing pieces of information we need to stop NPC in its tracks might be just one research study away.

Marian and others alive today might be the one of the last children to die of NPC.

Or one of the first children to be cured.

Their lives are hanging in the balance.

Your choice to support NPC research today may be the difference.

Labs working on NPC Research, funded by NPC family foundations:

  • University of Pennsylvania

  • Washington University in St. Louis

  • Albert Einstein College of Medicine

  • The National Insitutes of Health

  • King's College London

  • Stanford University

  • University of Notre Dame

  • University of Michicgan

  • Rutgers University

  • University of California, San Diego

The science that can save them is in need of funding to get here faster, better, and in time:

  • gene therapy 

  • mRNA

  • protein regulation

  • improving cyclodextrin

  • combination therapies 


See the Ara Parseghian Medical Research Fund at University Notre Dame's funded researchers for more details on the current state of research.

Bringing a Cure In Time, How to Help
Ten years ago, NPC was a death sentence. Phenomenal foundations , individual families and family foundations, and brilliant, committed doctors and scientists fought to change this. It is working. There is more promise to cure NPC today than in the entire history of the disease. But, for Marian and others to live, this research needs to be accelerated to save their lives today. Their lives are hanging in the balance of how quickly we can act. 
Every dollar raised will directly fuel and accelerate research efforts of with the promise to save lives and supporting patient access to treatment, helping to tip the scales towards life for Marian and other children holding on for the help they need.