In 2015, the United States approved Kanuma (sebelipase alfa) for the treatment of infants living with rare lysosomal acid lipase deficiency. However, the therapy was not approved in other countries; infants with this rare genetic disorder were left without options, leading to early mortality, often before the first birthday. In England, clinical studies have been running at the National Institute for Health and Care Research (NIHR) Manchester Clinical Research Facility for years. Now, the NIHR reports that the National Institute for Health and Care Excellence (NICE) recommended Kanuma for use in treating the disease through the NIH.

Kanuma is a recombinant form of lysosomal acid lipase, an enzyme that breaks down certain lipids (fats) throughout your body. Infants with lysosomal acid lipase deficiency don’t have any lysosomal acid lipase. As a result, lipids accumulate in organs and tissues, causing numerous health issues. Kanuma is administered via intravenous infusion. It works as an enzyme replacement therapy (ERT), providing the missing enzyme to infants in need.

Following its approval, the NIHR shares that Kanuma will be available at:

• Great Ormond Street Hospital
• Birmingham Women’s and Children’s Hospital
• Manchester University NHS Foundation Trust

Outside of Kanuma, the NIHR recommends that infants with lysosomal acid lipase deficiency remain on a low-fat diet.

Understanding Lysosomal Acid Lipase Deficiency

Lysosomal acid lipase deficiency is a rare genetic disorder that causes a complete absence of lysosomal acid lipase. It results from LIPA gene mutations that are inherited in an autosomal recessive pattern. This means that children must inherit one defective gene from each parent to have this condition. Over 50 cases have been described in mdical literature. However, shares the National Organization for Rare Disorders (NORD), doctors believe that this condition is often misdiagnosed or underdiagnosed, so its prevalence may be wider than believed. Symptoms often manifest within the weeks following birth. From what we know, symptoms may include:

• Abdominal distention
• Hepatosplenomegaly (an enlarged liver and spleen)
• Jaundice (yellowing of the skin, eyes, and mucosa)
• Anemia (low red blood cell count)
• Malabsorption
• Persistent and forceful vomiting
• Frequent diarrhea
• Fatty and foul-smelling stools
• Failure to thrive
• Malnutrition
• Umbilical hernia
• Hypotonia (low muscle tone)
• A persistent low-grade fever
• Muscle or motor skill regression
• Cachexia (physical wasting and severe weakness)