Niemann-Pick disease
Power research to help children born with the rare genetic disorder Niemann-Pick type C.
At Action Medical Research we fight for medical breakthroughs for some of toughest fights our children face.
Niemann-Pick type C (NPC) is a devastating inherited disorder that typically affects infants and young children. Children can experience progressive neurodegeneration including problems with swallowing, gradual loss of speech and movement, learning difficulties and dementia. Sadly, many do not survive into adulthood.
We urgently need your help to raise £12,000 towards a vital piece of research to test the effectiveness of a potential new drug treatment that could transform the lives of children fighting NPC.
100% of your gift will support this research, so you will play a crucial part in driving this research forward.
Our research to fight NPC
Find out more about the research we're funding to help fight this devastating disease.
Matilda's fight
Matilda was just five years old when she was diagnosed with NPC. It was heartbreaking news for her parents. To know that they'd have to watch this disease progressively rob their amazing little girl of the simplest of tasks like walking, swallowing and talking.
“Helping her to understand this condition has been heartbreaking. She knows that things will get worse, that it will try and take away abilities that she has, but we won’t just sit back and let it happen. We are determined to fight Niemann-Pick C.”