This website is intended for healthcare professionals


Life-saving therapy to be offered to babies with rare genetic disease

Babies with a rare and fatal disease will be able to live past their first birthday by receiving life-saving treatment on the NHS

A new enzyme replacement therapy, Sebelipase alfa, is being rolled out on the NHS to treat babies with Wolman disease.

The 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. Without treatment, infants with Wolman disease normally do not live to see their first birthday.

NHS England chief executive Amanda Pritchard said it was the ‘first time the NHS could 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,’ she said.

More on this topic:

The enzyme replacement therapy 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, and some patients may also have a blood and marrow/stem cell transplant.

The drug has already made a difference in children’s lives. Hashir Nawaz, eight, from Sheffield, South Yorkshire, was diagnosed with Wolman disease aged three months, and began the treatment in January 2016 as part of a clinical trial at Royal Manchester Children’s Hospital (RMCH).

His father, Jabran Nawaz, said Hashir would ‘not be alive today’ without the treatment. Hashir is now able to live a normal life, he is ‘going to school full-time, meeting friends on the weekend, and enjoying holidays abroad, including Disneyland,’ he 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,’ said Professor Simon Jones, clinical director of the National Institute of Health and Care Research Manchester Clinical Research Facility at the RMCH.

Following approval by the National Institute of Health and Care Excellence (NICE), 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).