Research and Clinical Trials

The Lysosomal Acid Lipase Deficiency Registry

The LAL-D Registry is a place where your doctor can enter information about LAL-D patients' medical condition but with no identifying information. This is essential, especially since LAL-D is rare because it helps researchers to learn more about the characteristics of LAL-D to increase scientific knowledge and lead to new discoveries. Please ask your doctor if you would like to be enrolled in the LAL-D registry so that your signs and symptoms or your child's can be including in the body of knowledge on LAL-D. 

To learn more about the LAL-D Registry please visit ClinicalTrials.Gov LAL-D Registry

LAL-D Registry


Clinical Trials

Synageva BioPharma Corporation was bought by Alexion Pharmaceuticals, which continues to study sebelipase alfa under the commercial name Kanuma, a potential enzyme replacement therapy for LAL D. More information about clinical trials can be found at (search term “LAL Deficiency)”.


On September 1, 2015, Alexion announced that the European Commission approved Kanuma for the treatment of patients of all ages with LAL-D. The FDA granted Breakthrough Therapy designation for Kanuma for LAL Deficiency presenting in infants and accepted the Kanuma BLA for Priority Review. In addition, a New Drug Application for Kanuma has been submitted to Japan’s Ministry of Health, Labour and Welfare.