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NCT ID: NCT02851550 Recruiting - Clinical trials for Liver Post-transplant Patients

Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant Patients

LALTH-2
Start date: December 2015
Phase: N/A
Study type: Observational

Lysosomal Acid Lipase (LAL) deficiency is a rare, autosomal recessive storage disease linked to decrease enzymatic activity of LAL, responsible for intracellular accumulation of cholesterol esters and triglycerides. The accumulation of lipid is in hepatocytes, Kupffer cells and macrophages leading to a fatty liver, hepatic fibrosis that can evolve up to cirrhosis. LAL deficiency is responsible for significant morbidity and early mortality in children, adolescents and adults in connection with a multi visceral disease reaching the liver, gastrointestinal tract and the vascular endothelium. The disease is caused by homozygous or heterozygous mutations in the gene (LIPA chromosome 10q23.2-23.3) which is responsible for the synthesis of the LAL. The disease can be diagnosed by enzymatic analysis using few drops of blood absorbed onto blotting paper. Patients with this deficiency LAL, have no or reduced activity of this enzyme. Because of its rarity, the deficit in LAL is under diagnosed or is diagnosed in patients with liver biological disturbances and / or lipid profile disturbances, steatohepatitis-hepatitis (NASH), the steatosis (NAFLD), the cryptogenic cirrhosis or Wilson disease. Inclusion period of 12 to 18 months (100 patients).