Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant.

Overview

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).

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: October 2017

Clinical Trial Outcome Measures

Primary Measures

  • Deficiency Lysosomal Acid Lipase prevalence in patients waiting for a liver transplant
    • Time Frame: During the routine visit (Day 1)
    • Assessment of deficiency Lysosomal Acid Lipase prevalence in patients waiting for a liver transplant

Participating in This Clinical Trial

Inclusion Criteria

  • patients registered on the liver transplant waiting list. – patients with cryptogenic cirrhosis, NASH Exclusion Criteria:

  • Patients without metabolic syndrome clinical, biological or radiological.

Gender Eligibility: All

Minimum Age: 18 Years

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Hospices Civils de Lyon
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Official(s)
    • Sylvie Radenne, MD, Principal Investigator, Hospices Civils de Lyon
  • Overall Contact(s)
    • Sylvie Radenne, MD, (0)4 26 10 93 59, sylvie.radenne@chu-lyon.fr

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