Rare Disease Report

Lysosomal Acid Lipase (LAL) Deficiency and Sebelipase Alfa

MAY 05, 2014

Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by decreased activity of the LAL enzyme. The end result is an accumulation of lipid substrates in various tissues and cell types, primarily in the hepatic, gastrointestinal, and cardiovascular systems. Disease progression is highly variable with a broad range of abnormalities, including dyslipidemia, enlargement of the liver and spleen, liver dysfunction, liver fibrosis, cirrhosis, and, ultimately, hepatic failure as well as severe malabsorption.
In this exclusive interview with Rare Disease Report, Mark Goldberg, MD, executive vice president, Medical & Regulatory Strategy, Synageva Biopharma, provides an informative overview of LAL deficiency, as well as a summary of the recent preclinical and clinical data available with their lead candidate—sebelipase alfa—for treatment of patients with LAL deficiency.
As Dr. Goldberg explains in this video, the current clinical data with sebelipase alfa in adults with LAL deficiency shows sustained reductions in the biomarkers of liver damage and sustained improvements in dyslipidemia at 90 weeks, and that the drug was generally well tolerated, with most adverse events mild and unrelated to sebelipase alfa. 

Data from an ongoing phase III clinical trial in children and adults is currently under way with topline results expected during the third quarter of this year.


Tripuraneni R, Whitney C, Valayannopoulos V, et al. Effect of sebelipase alfa after 90 weeks in adults with lysosomal acid lipase deficiency. Poster presented at the 2014 National Lipid Association Scientific Sessions; May 1-4, 2014; Orlando, FL. Poster #177.

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