Niemann-Pick Research Foundation
Who we are
The charity was established in 2011 by parents whose son was diagnosed with Niemann-Pick Disease Type C ("NPC"). NPC is ultra-rare with less than 100 cases in the UK and 1,000 known cases worldwide. There is no cure.
NPC is a progressive, disabling, neurological disease which is sometimes referred to as "Childhood Alzheimers". In children, first symptoms can be severe liver disease and/or respiratory failure. Other children can present with low muscle tone and developmental delay. The classic presentation occurs in mid-to-late childhood with the onset of unsteady movement, eye movement abnormalities and dementia. Involuntary muscle spasms and seizures are common. Dysarthria (a speech disorder- NPC patients tend to slur their speech) and difficulty in swallowing eventually becomes disabling, making oral feeding impossible. Aspiration pneumonia is the normal cause of premature death.
The sole objective of the charity is to raise funds to invest in research that can make a difference to today’s generation. A key goal is to spend as little on administration as possible to ensure that as much of what is raised can be used to fund research. As of Dec 2018, £650k has been committed to research across 17 grants.