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…”
October 29, 2026 Dear NPC Organizational Leaders, As we approach the conclusion of Niemann-Pick Disease Awareness Month, we are overjoyed to announce the submission of our New Drug Application (NDA) to the FDA for Trappsol® Cyclo™ (remibetadex, previously identified as intravenous hydroxypropyl-β-cyclodextrin). This NDA seeks approval for the treatment of the neurovisceral manifestations of NPC […]
Information for families and the NPC community We know that people living with Niemann-Pick disease type C (NPC), and their families, want to be kept informed about research and potential new treatment opportunities. We would therefore like to share information about NAVIGATE, a clinical trial that is currently recruiting children and adults with NPC. Please […]
On 5 October 2026, IntraBio announced that it has entered into an agreement to be acquired by Shionogi, a global pharmaceutical company with a growing commitment to rare disease. We recognise that news like this may naturally raise questions for people living with Niemann-Pick disease type C (NPC), their families and the wider community. We […]
As we begin Niemann-Pick Disease Awareness Month, we are shining a spotlight on the incredible efforts of families, friends and supporters who are helping to raise awareness of this rare disease and make a difference to those affected by it. To start the month, we are delighted to share the story of Alfie Lewis, who […]
At Niemann-Pick UK, we know that the road to an ASMD diagnosis is often not straightforward. Many individuals and families experience years of uncertainty, unanswered questions, and repeated visits to healthcare professionals before finally receiving a diagnosis. By sharing your story, you can help us better understand these experiences and identify what might help others […]
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 […]
