First-ever therapy for rare genetic disease in babies to save lives on the NHS

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deal struck by NHS England, sebelipase alfa has today [27 November] been recommended for use on the NHS in final draft guidance by the National Institute for Health and Care Excellence (NICE).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).

Hashir Nawaz, 8, from Sheffield, South Yorkshire, was diagnosed with Wolman disease aged 3 months. Hashir started treatment with sebelipase alfa in January 2016, first as part of a clinical trial at the Royal Manchester Children’s Hospital, and then via a compassionate access scheme. Hashir receives the treatment once every two weeks.

Hashir’s father, Jabran, said: “Without sebelipase alfa, Hashir would not be alive today. Thanks to the treatment, Hashir turned eight last month and is able to live a normal life – going to school full-time, meeting friends on the weekend, and enjoying holidays abroad, including Disneyland. This medicine has made a huge difference to our lives, and we are incredibly grateful to the clinicians and the hospital for Hashir’s treatment.”

Shoaib, 8, from Halifax, started treatment with sebelipase alfa when he was three days old. Having had an older brother sadly pass away from Wolman disease, Shoaib was diagnosed with the rare condition after an antenatal scan. By this time, sebelipase alfa was now available as part of a clinical trial at Royal Manchester Children's Hospital, and Shoaib was able to benefit.

After being treated with the drug for over two years, Shoaib was able to receive a haematopoietic stem cell transplant, meaning he no longer requires treatment with sebelipase alfa.

Shoaib’s mother, Nadia, said: “When Shoaib was diagnosed with Wolman disease we were incredibly worried as we’d already lost another child to the illness. However, the treatment gave us real hope for the future, enabling Shoaib to live a normal life where he can go to school every day. The treatment was fantastic, and I’m thrilled that more children will now be able to access it through the NHS.”

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.

John Stewart, National Director for Specialised Commissioning, NHS England said: “It’s fantastic news that babies born with Wolman disease will be able to benefit from this life-saving treatment on the NHS from today.

“This is just the latest example of patients benefiting from innovative medicines secured through NHS commercial deals, following shortly after a new five-year medicines agreement was reached with the pharmaceutical industry that will enable rapid patient access to the treatments of tomorrow.”

Up to £340 million 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.

Professor Simon Jones, Consultant in Paediatric Inherited Metabolic Disease at the Manchester Centre for Genomic Medicine at Saint Mary’s Hospital and Clinical Director of the NIHR Manchester Clinical Research Facility at RMCH, said: “Today marks a major milestone in treatment for infants born with Wolman disease and signifies a substantial step forward in our dedication to practical advancements in rare disease medicine and improved patient outcomes, through research.

“I am thrilled to see that this lifesaving drug will now be available on the NHS as a specialist service for the benefit of more children and families with this rare genetic condition. More than a decade on since our world-first clinical trials, I am incredibly proud of what our research and clinical teams here in Manchester have delivered collaboratively, which has contributed to this successful outcome.

“Both Shoaib and Hashir received sebelipase alfa through clinical trials at the NIHR Manchester Clinical Research Facility at Royal Manchester Children’s Hospital, in collaboration with the Manchester Centre for Genomic Medicine at Saint Mary’s Hospital (both part of MFT). It is extremely rewarding to see how life-changing this treatment has been for them and their families, and we are pleased to provide this specialist service to more infants, as one of three sites delivering the therapy in England.”                                                                                      

Sean Richardson, Vice President and General Manager, Alexion, UK said: “Today is a milestone moment for infants born with Wolman Disease and their families. The recommendation is the result of continued constructive collaboration between Alexion, NICE, NHS England, patient groups, and the medical community, to ensure babies born with this life-threatening disease have a treatment available to them.”