Wolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency.

Lysosomal Acid Lipase Deficiency: Expanding Differential Diagnosis

Sebelipase alfa (Kanuma™) is a recombinant human lysosomal acid lipase (LAL) developed by Synageva BioPharma Corp. (now Alexion Pharmaceuticals, Inc.) for long-term enzyme replacement therapy in patients with LAL deficiency. The agent, administered by intravenous infusion once weekly or once every other week, acts to replace the deficient enzyme activity in patients with LAL deficiency, reducing lysosomal lipid accumulation, and thereby improving disease-related abnormalities such as dyslipidaemia and liver abnormalities. Sebelipase alfa received its first global approval, in the EU, in August 2015 for long-term enzyme replacement therapy in patients of all ages with LAL deficiency. Regulatory submissions have also been filed in the USA, Mexico and Japan for use in this indication. This article summarizes the milestones in the development of sebelipase alfa leading to this first approval for the treatment of LAL deficiency.

Sebelipase Alfa: First Global Approval

Lysosomal acid lipase deficiency (LALD) is a lysosomal storage disorder (LSD) characterized either by infantile onset with fulminant clinical course and very poor prognosis or childhood/adult-onset...

https://journals.sagepub.com/doi/pdf/10.1177/1756283X17705775

The role of sebelipase alfa in the treatment of lysosomal acid lipase deficiency

Successful sebelipase alfa desensitization in a pediatric patient.

SBC-102, a recombinant enzyme replacement therapy corrects clinically relevant phenotypic abnormalities in a rat model of lysosomal acid lipase deficiency

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SBC-102, a recombinant enzyme replacement therapy corrects clinically relevant phenotypic abnormalities in a rat model of lysosomal acid lipase deficiency