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NICE approves life-saving treatment for children with infantile lysosomal acid lipase deficiency

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The MPS Society is delighted to announce that after nearly eight years sebelipase alfa (Kanuma®) has been recommended by NICE (The National Institute for Health and Care Excellence) as an option for long-term enzyme replacement therapy for people with infantile lysosomal acid lipase deficiency (LAL D-Wolman disease), only if people are two years or younger when treatment starts.

Sebelipase alfa, manufactured by pharmaceutical company Alexion (AstraZeneca Rare Disease), is the first disease-modifying, life-saving treatment for people with Lal D. Alexion received marketing authorisation via the European Medicines Agency in 2015.

The original evaluation for this treatment commenced in January 2016 and considered all people, diagnosed with both the infantile and late onset form of LAL D. Following a pause in 2017, a new evaluation focusing on the infantile population commenced in 2022. The existing evaluation remains on hold and we await further updates from NICE regarding this.

Infantile LAL D (Wolman disease) is an ultra-rare fatal condition. Babies are usually acutely unwell within weeks of being born. Symptoms include severe failure to thrive, including vomiting, malabsorption, diarrhoea, poor growth, liver disease, hepatosplenomegaly and appear lethargic, irritable and distressed. Untreated children typically do not survive to see their first birthday. With treatment, we now have children aged over ten years who are thriving and meeting developmental milestones equivalent to children without the condition.

Clinical trials and compassionate use outcomes of sebelipase alfa in the infantile population has not only demonstrated its lifesaving potential but has also shown enhanced health and quality of life of patients with minimal health related burden.

The NICE re-evaluation looked at clinical trial evidence and feedback from patient and clinical experts.

The committee acknowledged that infantile LAL D (Wolman disease) ‘is an ultra-rare, fatal condition, that has a significant negative impact on quality of life for people with the condition and their families and carers. It also recognised the importance of sebelipase alfa as a life-saving treatment option for people with Wolman disease.’

Bob Stevens, Group Chief Executive of the MPS Society, said:

Today we celebrate the news that after nearly eight long years, NICE have recommended that babies and children (two years or younger) with the most severe form of LAL D are able to access life-saving treatment through the NHS in England and Wales. It has been a long and at times difficult journey and we thank all our clinical and patient community for their support with this evaluation as well as Alexion (AstraZeneca Rare Disease) for providing compassionate treatment throughout this time.

Clinical expert Professor Simon Jones (Consultant in Paediatric Inherited Metabolic Disease at Saint Mary's Hospital, Manchester University NHS Foundation Trust and Clinical Director of NIHR Manchester Clinical Research Facility at Royal Manchester Children’s Hospital) commented:

I am so pleased to have reached this outcome and to be able to finally treat children with Wolman disease on the NHS. This would not have been possible without the support of the MPS Society in generating and communicating evidence to NICE and supporting the clinicians and families on this journey. This is an incredibly effective drug and quite literally, is life-saving.

Patient expert Lee-Anne Lorimer said:

It's such fabulous news. It's been a long time coming and I wasn't ever sure we would actually get here. What a milestone and life changing moment for so many families now and in the future.

The final draft guidance document (FDG) can be found here.

Notes for editors

Contact details

For further information or to arrange interviews, please contact the Communications team on 0345 389 9901 or email communications@mpssociety.org.uk.

About MPS Society

Founded in 1982, by Christine Lavery MBE, the Society for Mucopolysaccharide Diseases, or MPS Society, is the only registered charity providing professional support to individuals and families affected by the rare, life-limiting genetic diseases: MPS, Fabry and related conditions in the UK. The MPS Society is transforming the lives of those affected and supports over 1,750 people per year.

About Alexion

Alexion (AstraZeneca Rare Disease) is the group within AstraZeneca focused on rare diseases, created following the 2021 acquisition of Alexion Pharmaceuticals, Inc. As a leader in rare diseases for nearly 30 years, Alexion is focused on serving patients and families affected by rare diseases and devastating conditions through the discovery, development and commercialisation of life-changing medicines. Alexion focuses its research efforts on novel molecules and targets in the complement cascade and its development efforts on haematology, nephrology, neurology, metabolic disorders, cardiology and ophthalmology. Headquartered in Boston, Massachusetts, Alexion has offices around the globe and serves patients in more than 50 countries. [i]

About AstraZeneca

AstraZeneca (LSE/STO/Nasdaq: AZN) is a global, science-led, biopharmaceutical company that focuses on the discovery, development, and commercialisation of prescription medicines in Oncology, Rare Diseases and BioPharmaceuticals, including Cardiovascular, Renal & Metabolism, and Respiratory & Immunology. Based in Cambridge, UK, AstraZeneca operates in over 100 countries and its innovative medicines are used by millions of patients worldwide. Please visit astrazeneca.com and follow the company on social media @AstraZeneca.

[i] AstraZeneca. (2023). Alexion, AstraZeneca Rare Disease, enters agreement with Pfizer to acquire a portfolio of preclinical rare disease gene therapies. Last Accessed Nov 2023. Alexion, AstraZeneca Rare Disease, enters agreement with Pfizer to acquire a portfolio of preclinical rare disease gene therapies

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