Babies and toddlers with a rare and fatal genetic condition can now receive a life-saving treatment on the NHS for the first time.
Sebelipase alfa (Kanuma), an enzyme replacement therapy, will become the first treatment available on the NHS for Wolman disease, a condition which presents in babies and children under two years old.
Following a commercial deal struck by NHS England, sebelipase alfa has today [27 November] been recommended for use on the NHS in final draft guidance by the National Institute for Health and Care Excellence (NICE).
Wolman disease, a type of lysosomal acid lipase deficiency, is a rapidly-progressing and life-threatening rare, genetic condition that causes multi-organ damage.
It occurs in around 1 in 350,000 births and causes a build-up of fat in cells in the liver, heart, blood vessels, and digestive system. Symptoms in babies include enlarged liver and spleen, poor weight gain, low muscle tone, jaundice, vomiting, diarrhoea, developmental delay, anaemia, and malabsorption.
There were previously no treatment options for Wolman disease on the NHS, with standard care being palliative and limited to managing symptoms – without treatment, infants with Wolman disease normally do not live to see their first birthday.
Sebelipase alfa is an enzyme replacement therapy, which works by replacing an enzyme missing in the body, alongside a restricted, low-fat diet. Treatment involves weekly intravenous infusions which can be given at home – some patients may also have a blood and marrow/stem cell transplant.
Following today’s recommendation, the life-saving treatment will be fast-tracked to be available to any eligible patients straight away, funded via NHS England’s Innovative Medicines Fund (IMF).
NHS chief executive, Amanda Pritchard, said: “I am delighted the NHS can now, for the first time, offer a life-changing treatment to families facing this enormously difficult condition.
“Where previously there were no treatments available for infants facing this debilitating disease, this new therapy could save families from facing indescribable grief and allow more children like Hashir and Shoaib to grow up, go to school and live normal lives.”
It is estimated that around one or two babies born every year in England will have the condition, which is caused by mutations in a gene and is an inherited, recessive condition. Clinical trials have shown this treatment improves patient’s life expectancy and quality of life.
The therapy, which is manufactured by Alexion, AstraZeneca Rare Disease, will be delivered by specialist services at Manchester University NHS Foundation Trust, Birmingham Women’s and Children’s Hospital and Great Ormond Street Hospital.
Up to £340m was made available through NHS England’s Innovative Medicines Fund, which launched last year, to purchase the most promising medicines and fast-track them to patients to give people the best chances of survival, or a healthier, longer life. Under the arrangements, sebelipase alfa will not enter managed access, but immediate funding will be provided from the IMF to enable routine patient access up to five months earlier than would otherwise be the case.
The IMF has already been utilised this year to provide accelerated patient access to treatments for hepatitis D and a painful long-term skin condition.
