RARE Daily

First-ever Therapy for Rare Genetic Disease in Babies to Save Lives on the NHS

November 27, 2023

Rare Daily Staff

The U.K.’s National Institute for Health and Care Excellence, the nation’s watchdog on the value of therapies, recommended Alexion’s Kanuma, an enzyme replacement therapy for the treatment of the ultra-rare metabolic disorder Wolman disease in children who are diagnosed at two years or younger.

It is the first therapy NICE has recommended for the life-threatening metabolic condition.

Wolman Disease is a progressive disease that occurs when deficient LAL enzyme activity leads to the continuous, uncontrolled accumulation of lipids in vital organs such as the liver, blood vessels, and other tissues. Symptoms in newborns or very young infants include enlarged liver and spleen, poor weight gain, low muscle tone, jaundice, vomiting, diarrhea, developmental delay, anemia, and poor absorption of nutrients from food. Infants with Wolman disease normally do not live to see their first birthday without treatment.

Kanuma is an enzyme replacement therapy that treats the underlying cause of lysosomal acid lipase deficiency (LAL-D). The medication works by replacing the deficient lysosomal acid lipase (LAL) enzyme and reducing the accumulation of fatty materials in the lysosomes of cells throughout the body. Kanuma is approved for the treatment of LAL-D in the United States, European Union, Japan, Canada, and other countries around the world.

In the final draft guidance, NICE recognized the importance of enzyme replacement therapy as a life-saving treatment option for people with Wolman disease. The guidance also specified that the recommendation is not intended to affect treatment of people who started in the NHS before this guidance was published. People having treatment outside this recommendation may continue without change to the funding arrangements in place for them before this guidance was published, until they and their NHS clinician consider it appropriate to stop.

“Ensuring access to new treatments for rare diseases is essential – it is not just about medicine; it is about giving everyone, no matter how rare their condition, the possibility of improved health,” said Sean Richardson, vice president and general manager of Alexion in the United Kingdom. “The recommendation is the result of continued constructive collaboration with NICE, NHS England, and other important stakeholders to establish a sustainable access solution for this ultra-rare disease, but we must find ways to ensure all parties can more swiftly deliver lifesaving medicines to this underserved patient group.”


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