First ever therapy for Wolman disease to be rolled out by NHS

The first ever treatment has been approved for children under two years old with Wolman disease – a rare, life-threatening genetic condition that causes multi-organ damage.

Sebelipase alfa (Kanuma) is an enzyme replacement therapy which has been shown to improve patient’s life expectancy and quality of life.

Until now, there have been no treatment options for Wolman disease on the NHS, with standard care being palliative and limited to managing symptoms.

Now, in final draft guidance, the National Institute for Health and Care Excellence (NICE) has recommended Sebelipase alfa for use on the NHS.

What is Wolman disease?

Wolman disease, which occurs in around one in 350,000 births, is a type of lysosomal acid lipase deficiency.

It is an inherited disease caused by a lack of lysosomal acid lipase, which is needed to break down fats within cells.

When this enzyme is absent or lacking, fat accumulates in the body’s cells, causing symptoms such as 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.

How is Sebelipase alfa administered and how effective is it?

Sebelipase alfa, which is manufactured by Alexion, works by replacing the lysosomal acid lipase enzyme which is missing in the body. It is administered via IV and is recommended alongside a restricted, low-fat diet.

The recommended dose is 1mg per kg of body weight given once every other week. However, in patients who have rapidly progressing disease before six months of age, a dose of 1 mg/kg is given once a week instead of once every other week.

In these patients, the dose can be increased to 3 mg/kg once a week depending on the response to treatment. The infusion should last around one to two hours.

The EMA recommends that the treatment is given by a trained healthcare professional who can manage medical emergencies (such as a severe allergy).

Kanuma can only be obtained with a prescription; it should be started as early as possible after diagnosis and is intended for long-term use.

In a clinical trial involving 66 patients, 31% of the patients given Kanuma (11 out of 36) achieved normal levels of a liver enzyme called ALT, compared with 7% of the patients given placebo (2 out of 30).

In another smaller trial involving nine infants, six of those given Kanuma survived to one year of age. Growth improvements were also observed in all 6 surviving infants.

Medicine set to vastly improve lives of children living with Wolman disease

Case studies have shown how life changing the treatment can be. Hashir Nawaz, 8, from Sheffield, South Yorkshire, was diagnosed with Wolman disease aged three months.

After being treated with Sebelipase alfa through a compassionate access scheme, Hashir’s condition greatly improved, and he is now eight years old.

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.”

NHS chief executive, Amanda Pritchard, said she is “delighted” the NHs can now 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 to grow up, go to school and live normal lives,” she said.