The ‘Life Is Rare‘ Campaign, launched by Niemann-Pick UK (NPUK), is a powerful call to action to advocate for access to Xenpozyme (olipudase alfa), a groundbreaking enzyme replacement therapy for Acid Sphingomyelinase Deficiency (ASMD) Niemann-Pick disease types A/B and B. This ultra-rare, life-limiting condition affects children and adults, causing severe organ damage due to the buildup of fatty substances in cells. Xenpozyme, the first ASMD-specific treatment, has been shown to extent life expectancy by up to 30 years while significantly improving quality of life. It is currently accesible in over 50 countries, including Scotland, but remains unavailable in England and Wales following the National Institute of Health and Care Excellence (NICE)’s decision in March 2024 not to recommend it for NHS use.
“Life is rare. For the ASMD community, children, adults, and families living with Acid Sphingomyelinase Deficiency, it is heartbreaking short without treatment. Xenpozyme offers patients an extraordinary 30 extra years of better-quality life. Yet, in England, despite the hope it brings, it remains out of reach.” – Toni Mathieson, NPUK CEO
NICE’s decision, outlined in their Final Draft Guidance, means ASMD patients in England and Wales are left with only best supportive care, which is complex, costly, and does not halt condition progression.. This contrasts starkly with Scotland, where the Scottish Medicines Consortium (SMC) approved Xenpozyme under its ultra-orphan assessment framework. The disparity in access highlights systemic challenges in evaluating treatments for ultra-rare diseases, where patient populations are small, and clinical trials face unique complexities.
NPUK is challenging this decision through advocacy, including an appeal hearing held on 24 May 2024, and by engaging key stakeholders to address the unmet needs of the ASMD community. The Life Is Rare campaign amplifies the voices of patients, families, and supporters to demand fair access to life-changing treatments.
Our community’s strenght lies in its stories. Below are powerful video testimonies from individuals and families affected by ASMD, shared on our YouTube channel. These videos highlight the urgent need for Xenpozyme and the profound impact of NICE’s decision.
During our Niemann-Pick UK Family Conference & Interactive Workshop, we asked Rafi Berkowitz (ASMD NPB), “what would you do with 30 more years?”
We need your support to make a difference. Here’s how you can get involved:
For more information about ASMD, Xenpozyme, and NPUK’s advocacy efforts, explore these resources:
NPUK remains commited to advocating for effective, affordable treatments for all Niemann-Pick diseases. Thank you for standing with us in this critical fight.
A wave of media coverage has shone a powerful light on our fight for access to Xenpozyme, bringing national attention to the urgent need for action. As families continue to wait, the Government must step up.