Lysosomal Acid Lipase (LAL) Deficiency is an autosomal recessive lysosomal storage disorder caused by decreased activity of the LAL enzyme. The end result is that there 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 at Synageva Biopharma provides an excellent overview of LAL Deficiency as well as a summary of the recent preclinical and clinical data available with their lead candidate- sebelipase alfa — to treat patients with LAL deficiency. As Dr Goldberg explains in this video, the current clinical data shows sebelipase alfa to be safe and effective after 90 weeks of treatment and a phase 3 clinical trial is currently underway and expected to be completed by the end of 2014.

Tripurmani R, Whitney C, Valayannopoulos v, et al Effect of sebelipase alfa after 90 weeks in adults with lysosomal acid lipase deficiency. Poster presented at National Lipid Assocation (NLA) Scientific Session; Orlando FL; May 1-4, 2014; Poster #177.


Source: Lysosomal Acid Lipase (LAL) Deficiency and Sebelipase Alfa