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…”
AUSTIN, Texas–(BUSINESS WIRE)–IntraBio Inc. today announced that the European Commission granted marketing authorization to AQNEURSA® (levacetylleucine) for the treatment of neurological manifestations of Niemann-Pick Type C (NPC) disease, following a positive opinion from the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA). AQNEURSA® is approved in the European Union for use […]
What is Breakthrough Therapy Designation? This FDA designation is reserved for medicines that treat serious or life-threatening conditions and show substantial potential to improve upon existing therapies. It helps to accelerate the development and review process. For adrabetadex, the designation is supported by survival data from treated patients compared with untreated individuals. About Adrabetadex Adrabetadex […]
NPUK supports individuals and families affected by Niemann-Pick diseases, a group of rare, life-limiting, genetic conditions. For over three decades, the charity has provided practical and emotional support, advocacy and information, bringing hope and uniting a community which often feels isolated by the rarity of these devastating conditions. Receiving The King’s Award for Voluntary Services […]
Urgent Appeal for Support After Malicious Attack on September 11th On the night of September 11th, a malicious fire completely destroyed Vermont House, the long-standing base for Niemann-Pick UK (NPUK)’s Central Office. This catastrophic attack has left our charity facing immense challenges, with the entire building reduced to ruins. Caught in the crossfire of ongoing […]
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 […]
