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…”
AQNEURSA® (levacetylleucine) recommended for EU approval by the CHMP to treat Niemann-Pick Disease Type C AUSTIN, Texas – 29 July 2025 – IntraBio Inc., a biopharmaceutical company focused on developing therapies for rare neurological diseases, today announced that the European Medicines Agency’s (EMA) Committee for Medicinal Products for Human Use (CHMP) has issued a positive […]
Zevra Therapeutics Submits Marketing Authorization Application to European Medicines Agency to Review Arimoclomol for the Treatment of Niemann-Pick Disease Type C CELEBRATION, Fla., July 28, 2025 — Zevra Therapeutics, Inc. (NasdaqGS: ZVRA) (Zevra, or the Company), a commercial-stage company focused on providing therapies for people living with rare diseases, announced the company submitted a Marketing […]
Azafaros Announces Initiation of two Global Phase 3 studies with Nizubaglustat in Niemann-Pick disease Type C (NPC) and GM1/GM2 gangliosidoses, respectively LEIDEN, Netherlands–(BUSINESS WIRE)–Azafaros, a company focused on developing treatments for the unmet needs of patients with rare lysosomal storage disorders, today announced that the first patient has been dosed in the company’s pivotal, multicenter […]
A newly approved treatment is now giving hope to patients of the rare illness known as Niemann-Pick disease…” – THV11
After several incredible years of passion, dedication, and creativity, we’re saying a heartfelt goodbye to our much-loved Fundraising Officer, Jenny Geere. Jenny has been more than just a colleague — she’s been a bright light in the NPUK family. From organising unforgettable events, leading fundraising campaigns, and connecting with families across the community, her work […]
Washington, Tyne and Wear, Wednesday 2nd April 2025 – Niemann-Pick UK (NPUK) expresses deep disappointment following the National Institute for Health and Care Excellence (NICE)’s decision not to recommend xenpozyme (olipudase alfa), an innovative therapy developed by Sanofi, for routine use within the NHS. This ruling denies patients living with ASMD Niemann-Pick disease type B […]
