Babies with rare disease to survive past first birthday with new drug available on NHS

Newborn baby in hospital
Newborn baby in hospital

Babies with a rare and fatal disease will be able to live past their first birthday thanks to a new drug available on the NHS.

There are currently 10 children in Britain with Wolman disease, which usually results in death within the 12 months of a baby’s life. A missing enzyme causes a rapid build-up of fat in the liver, heart, blood vessels, and digestive system, leading to multiple organ failure and death.

A new £300,000 a year enzyme replacement therapy, being rolled out on the NHS from Monday, however, could help them live normal lives.

Sebelipase alfa, also known by brand name Kanuma, is a weekly intravenous infusion that replaces the missing enzyme, lysosomal acid lipase, and can be administered at home.

Children are likely to have to take it for life or until, if eligible, they are able to receive a stem-cell transplant, although this is not currently available on the NHS.

Wolman disease affects one in 350,000 children

The drug was given the green light by the National Institute for Health and Care Excellence (Nice) after the NHS struck a commercial deal to make it immediately available to patients. Previously there was no NHS treatment available, with doctors only able to recommend a low-fat diet and symptom management.

Wolman disease occurs in around one in every 350,000 births, with symptoms including enlarged livers or spleens, poor weight gain and muscle tone, jaundice, anaemia, and developmental delays.

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.

The treatment will be delivered by specialist services at London’s Great Ormond Street Hospital, Birmingham Women’s and Children’s Hospital and Manchester University Trust.

‘Drug has made a huge difference to our 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. His father, Jabran Nawaz, said Hashir would “not be alive today” without the treatment.

“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,” he said.

“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.”

Another child on the same trial, Shoaib, eight, from Halifax, started treatment with sebelipase alfa when he was three days old. After being treated with the drug for more than two years, Shoaib was able to receive a haematopoietic stem-cell transplant, and no longer requires treatment with the drug.

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.”

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