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

NCT02852304 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2016-08-02

No results posted yet for this study

Summary

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).

Conditions

  • Patients Waiting for a Liver Transplant.

Sponsors & Collaborators

  • Hospices Civils de Lyon

    lead OTHER

Principal Investigators

  • Sylvie Radenne, MD · Hospices Civils de Lyon

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2015-10-31
Primary Completion
2017-10-31
Completion
2018-03-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02852304 on ClinicalTrials.gov