Data shows 80% of infants with lysosomal acid lipase deficiency treated with Kanuma survive beyond 1 year of age.- Alexion Pharma.

Alexion Pharmaceuticals, Inc. announced that new interim data show that 80% of infants (8 out of 10) with rapidly progressive lysosomal acid lipase deficiency (LAL-D) treated with Kanuma (sebelipase alfa) survived beyond 1 year of age. Patients also benefited from improvements in a number of key parameters including weight gain and lipid biomarker levels. There were no discontinuations due to adverse events.

These data from an ongoing, open-label study were presented at the NASPGHAN Annual Meeting in Las Vegas and confirm previously published survival data from the VITAL study. LAL-D is a genetic, chronic and progressive ultra-rare metabolic disease in which patients can suffer from multi-organ damage and experience premature death. For LAL-D patients with symptoms presenting in infancy, the median age of death is 3.7 months and mortality by 1 year is nearly 100 percent. LAL-D is caused by genetic mutations that result in a deficiency in LAL enzyme activity in the lysosomes that is vital for the breakdown of lipids, leading to the chronic build-up of lipids (cholesteryl esters and triglycerides) in the liver, blood vessel walls, the intestinal system and other organs. Kanuma replaces the lacking or deficient LAL enzyme and is the only approved therapy to address the underlying cause of LAL-D.

Survival of Infants with Rapidly Progressive Lysosomal Acid Lipase Deficiency Treated with Kanuma: The current analyses evaluated patient survival and the clinical profile of infants surviving to more than 1 year of age in an ongoing, open-label study of Kanuma in infants who presented with signs or symptoms of rapidly progressive LAL-D. All 10 patients initiated treatment with Kanuma prior to 8 months of age and received 1 mg/kg once-weekly. One patient died at 5 months of age after receiving 4 infusions, and another at 13.8 months of age; both causes of death were considered by investigators to be unrelated to treatment with Kanuma The 9 patients who survived to 12 months of age had a dose increase to at least 3 mg/kg once-weekly following protocol-defined criteria. As of August 2017 , all 8 of the surviving patients are older than 12 months (median age of 29.8 months [range, 16.5-39.4]). The oldest patient has been receiving treatment with Kanuma for nearly three years (35.8 months).