Niemann-Pick diseases are a group of rare and devastating inherited lysosomal storage disorders that can affect both children and adults:
– Acid Sphingomyelinase Deficiency (ASMD) includes Niemann-Pick Disease type A (NPA) and type B (NPB), which are caused by a lack of the enzyme acid sphingomyelinase leading to a build-up of toxic materials in the body.
– Niemann-Pick Disease Type C (NPC) is a hugely life-limiting neurodegenerative disease caused by an accumulation of lipids (fats) in the liver, brain and spleen.
We know we’ve said it one hundred times before, but we’ll say it again just for good measure: we survive as a charity solely on the strength of donations raised by grants and fundraising. Without these we simply couldn’t exist, and as a result we wouldn’t be able to provide vital care and support for those individuals and their families and friends affected by Niemann-Pick diseases.
Without this vital support small charities, like Niemann-Pick UK, can often find themselves struggling when it comes to funding – which is why we mean it when we call our fundraisers, “heroes”!
Care and support is absolutely vital for patients and families affected by Niemann-Pick diseases, but pushing for further research and clinical trials, which could ultimately lead to new therapies and treatments, is never something we underestimate.
We’ve dedicated this section to showcase any and all advancements in the understanding and treatment of Niemann-Pick diseases. Year on year, we collaborate with global researchers, medical professionals, and institutions to share breakthroughs in areas such as genetic therapies, enzyme replacement, and novel drug developments.
This page is designed to provide accessible updates on clinical trials, diagnostic innovations, and emerging treatments which can empower our community with not only knowledge, but hope.
Nadia’s Story
“I’m parent of a child who has personally experienced first hand the profound impact of living with Niemann-Pick Diseases…”
Longitudinal study includes first published real-world data on arimoclomol in adults with NPC and provides insights across a broad patient population BOSTON, Aug. 03, 2026 (GLOBE NEWSWIRE) — Zevra Therapeutics, Inc. (NasdaqGS: ZVRA) (Zevra, or the Company), a commercial-stage company focused on bringing life-changing therapeutics to people living with rare diseases, today announced the publication […]
BOSTON, June 23, 2026 (GLOBE NEWSWIRE) — Zevra Therapeutics, Inc. (NasdaqGS: ZVRA) (Zevra, or the Company), a commercial-stage company focused on bringing life-changing therapeutics to people living with rare diseases, announced the publication of “Arimoclomol in infants with Niemann-Pick disease type C: Results from the phase 2/3 open-label pediatric substudy” in Molecular Genetics and Metabolism […]
A Significant Step Forward in NPC Research We’re pleased to share an important update from Cyclo Therapeutics, marking a significant moment in ongoing research into Niemann-Pick disease type C (NPC) and offering a real sense of progress for the global community affected by this rare condition. Cyclo Therapeutics has announced that the final patient has […]
National Lottery Community Fund Supports Innovative Projects to Amplify Patient Voices Across Wales and Northern Ireland We are delighted to share some really positive news…we’ve actually been awarded TWO grants by the National Lottery Community Fund! The first is a 12-month Wales-based communications programme focused on co-producing accessible video resources. The second is the Niemann-Pick […]
Your Voice is Needed Now! Niemann-Pick UK is proud to stand with Genetic Alliance UK and the wider rare disease community in the Future for Rare campaign. This national initiative aims to ensure that the voices of patients, families, and carers directly shape the future of rare conditions policy in the UK. The UK Rare […]
What is Childhood Dementia? Childhood dementia is an area that is under recognised and often misunderstood, despite there being over 140 neurodegenerative conditions – including Niemann-Pick disease type C – that can cause it. As these conditions progress, families face daily challenges in providing complex, round-the-clock care. The impact on family life is significant: […]
