LAL Deficiency, a lysosomal storage disorder, has early and late onset phenotypes, also referred to as Wolman Disease or Cholesteryl Ester Storage Disease (CESD), respectively. There is no approved treatment for LAL Deficiency.  Interventional research studies are currently recruiting patients for treatment with SBC-102.  SBC-102 is Synageva BioPharma’s recombinant human lysosomal acid lipase being developed as an enzyme replacement therapy. In addition, Synageva is conducting two natural history studies, one in early onset and the other in late onset LAL Deficiency.

Early onset Lysosomal Acid Lipase (LAL) Deficiency, is a very rare form of LAL deficiency with an estimated prevalence of less than 2 lives per million. This form of the disease is the most aggressive presentation of LAL deficiency and is characterized by gastrointestinal and hepatic manifestations. Wolman disease is rapidly progressive and fatal – usually within the first year of life.  Diagnosis of early onset LAL deficiency is established through both physical findings and laboratory investigations.  Infants typically present within the first two months of life with diarrhea, persistent vomiting, feeding difficulty, stunted growth, and failure to thrive.

Late onset LAL Deficiency, has an estimated incidence of 25 per million.  It is frequently associated with hepatomegaly resulting in fibrosis and cirrhosis, spleen enlargement with or without hypersplenism, and abnormal serum lipids (elevated LDL-cholesterol, low HDL-cholesterol). It may mimic other disorders including non-alcoholic fatty liver disease (NAFLD), non-alcoholic steatohepatitis (NASH), alcoholic liver disease and cryptogenic cirrhosis. There is significant morbidity associated with LAL Deficiency and some patients require liver transplants due to the severity of their liver disease. Co-existing atherosclerosis also increases the risk of heart attack and stroke in these patients.

If you are aware of living or deceased patients with LAL Deficiency or would like more information about Synageva’s clinical development program, please contact the Synageva Clinical Operations Team at 781-357-9900, clinicaltrials@synageva.comor

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