An observational study in Patients Waiting for a Liver Transplant., sponsored by Hospices Civils de Lyon. Status unknown at 1 site in France. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2016-08-02.
Sponsored by Hospices Civils de Lyon · 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).
35 studies on the registry are indexed under Wolman Disease; 5 are open to participants now.
This study's planned enrollment of 100 is below the median of 200 across 19 observational studies indexed under Wolman Disease.
Browse Wolman Disease studies →Hospices Civils de Lyon is the lead sponsor of 1,826 studies on the registry; 439 are open to participants now.
Counted across the registry records on this site, refreshed daily.
The Assessment of the prevalence of Lysosomal Acid Lipase deficiency were performed from few blood drops absorbed onto blotting paper during a routine visit in patients waiting for a liver transplant.
Patients will be included when they will be registered on the liver transplant waiting list.
The enzymatic analysis onto blotting paper will be made during a routine visit in patients with cryptogenic cirrhosis, NASH (isolated or associated with other liver disease).
Oral and written information will be given by the clinician. Only research team members will have access to patient data and their analysis. The patient data (age, gender, medical history, etiology of liver disease, liver function, lipid, glucose, radiological ...) will be collected and stored in an Excel file.
The diagnosis analysis deficit LAL will be performed as described in the article by Hamilton.
Exclusion Criteria:
Deficiency Lysosomal Acid Lipase prevalence in patients waiting for a liver transplant
Assessment of deficiency Lysosomal Acid Lipase prevalence in patients waiting for a liver transplant
Time frame: During the routine visit (Day 1)
This study is status unknown, as verified in Jul 2016. You cannot join it, but the record below documents what was studied.
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Hospices Civils de Lyon