Sebelipase alfa is well tolerated and leads to sustained improvements in liver and lipid parameters in adults and children with lysosomal acid lipase deficiency (LAL-D), according to the results of a clinical trial published in the Journal of Pediatric Gastroenterology and Nutrition.

Sebelipase alfa, sold under the brand name Kanuma®, is an enzyme replacement therapy for LAL-D approved by the US Food and Drug Administration to treat patients of all ages. It is a recombinant human lysosomal acid lipase enzyme that aims to replace the deficient enzyme.

The clinical trial was a single-arm, open-label, phase 2 study that assessed the safety and efficacy of long-term sebelipase alfa treatment in 31 patients aged 8 months and above. During the trial, participants received sebelipase alfa at a dose of 1 mg/kg by intravenous infusion every other week for up to 144 weeks. A dose escalation to 3 mg/kg every other week or 3 mg/kg per week was permitted.

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Read more about sebelipase alfa and other approved therapies for LAL-D

Of the 32 participants, 28 completed 96 weeks of treatment. Twenty-five patients continued onto the extension phase of the study, and 19 patients completed 144 weeks of treatment.

The results showed that the patients’ median alanine aminotransferase levels were reduced by 42 U/L and their aspartate aminotransferase levels were reduced by 22 U/L from baseline to week 144. 

Their median liver volume was also reduced from 1.4 times normal to 1.3 times normal. Similarly, their median spleen volume went from 2.6 times normal to 2.3 times normal. The median levels of low-density lipoprotein cholesterol decreased by 52.6 mg/dL, while median levels of high-density lipoprotein cholesterol increased by 9.8 mg/dL. 

Liver histopathology results either improved or were stable at 48 and 96 weeks of treatment compared to baseline. One patient had a mild infusion-associated reaction and 2 patients had moderate reactions. Two patients had nonneutralizing antidrug antibodies on 1 occasion.

“These results confirm that sebelipase alfa treatment provides sustained improvements in measures of lipid and liver dysfunction and is generally safe and well-tolerated in LAL-D patients for up to 144 weeks,” the researchers concluded. 


Burton BK, Sanchez AC, Kostyleva M, et al. Long-term sebelipase alfa treatment in children and adults with lysosomal acid lipase deficiency. J Pediatr Gastroenterol Nutr. Published online April 20, 2022. doi:10.1097/MPG.0000000000003452

Safety and efficacy study of sebelipase alfa in participants with lysosomal acid lipase deficiency. April 14, 2014. Updated December 4, 2019. Accessed April 26, 2022.