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Synageva BioPharma Corp. (“Synageva”) (NASDAQ:GEVA), a clinical stage biopharmaceutical company developing therapeutic products for rare disorders, today reported third quarter 2012 financial results and announced data from two posters on late onset LAL Deficiency presented at the recent National Society for Genetic Counselors (NSGC) meeting held October 24-27, 2012, in Boston, MA.
Late onset LAL Deficiency literature review data presented at NSGC meeting
During a poster session at the NSGC meeting, investigators presented their analysis of 135 cases of late onset LAL Deficiency (or Cholesteryl Ester Storage Disease, CESD) found in the published scientific literature for whom clinical information, liver pathology, and serum lipid levels were reported. The analysis revealed CESD-associated liver disease in all patients, including hepatomegaly in 99% of patients and elevated transaminases in all 52 patients with ALT & AST results. The investigators’ review of all 112 biopsy samples demonstrated characteristic histopathology including massive lysosomal lipid accumulation (microvesicular steatosis), cholesteryl ester crystals, fibrosis, and/or micronodular cirrhosis. Liver failure resulted in esophageal varices in 12 patients, nine liver transplants, and 8 of 11 reported deaths.
An additional poster from the same group of cases provided further details of the liver biopsy results. In CESD patients who had liver biopsies, fibrosis and/or cirrhosis due to abnormal fat accumulation affected more than 50% of patients, and importantly these abnormalities occurred in some patients within the first year of life. “These analyses clearly demonstrate the serious, chronic health consequences of late onset LAL Deficiency, and also remind us again that these complications can strike very early in childhood,” said Anthony Quinn, MBChB, PhD, FRCP, Senior Vice President and Chief Medical Officer of Synageva BioPharma. “The insights from this extensive literature review are consistent with findings from our ongoing review of the natural history of late onset LAL Deficiency.”
Both posters entitled “Liver Disease and Chronic Liver Failure have Complete Penetrance in Cholesteryl Ester Storage Disease, a Form of Lysosomal Acid Lipase Deficiency” and “Cholesteryl Ester Storage Disease (CESD): An Under-Recognized Disease of Lysosomal Acid Lipase Deficiency with Liver Dysfunction/Failure and Hyperlipidemia” were submitted by Donna L. Bernstein, MS, CGC et al, from the Division Of Medical Genetics, Steven and Alexandra Cohen Medical Center of New York, North Shore-Long Island Jewish Health System, New York.