AAV-LAL

AAV-LAL is an investigational gene therapy designed for the treatment of Lysosomal Acid Lipase Deficiency (LAL-D), a rare lysosomal storage disorder that includes Wolman disease and Cholesteryl Ester Storage Disease (CESD). The therapy utilizes an adeno-associated virus (AAV) vector, typically the AAV8 or AAVrh10 serotype, to deliver a functional human LIPA gene to the liver. LAL-D is caused by mutations in the LIPA gene, resulting in a deficiency of the lysosomal acid lipase enzyme and the subsequent accumulation of cholesteryl esters and triglycerides in various organs. By restoring enzyme production in hepatocytes, AAV-LAL aims to reduce hepatic lipid accumulation, normalize liver enzymes, and prevent progression to cirrhosis and liver failure. While preclinical studies have shown significant promise in correcting the metabolic phenotype, corporate development by Amicus Therapeutics (under the code AT-GTX-504) was deprioritized in 2021.

Other names

Adeno-associated virus-Lysosomal Acid LipasehLAL gene therapyAAV-hLAL