Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant. (LALTH-1)

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 Overview

• Status: Unknown
• Conditions: Patients Waiting for a Liver Transplant.

• Study Type: Observational
• Enrollment (Anticipated): 100

Contacts and Locations

Study Locations

• France
  • Lyon, France, 69004
    • Recruiting
    • Hépato-Gastro-Entérologie, Hôpital de la Croix Rousse, 103 gde rue de la Croix Rousse
    • Contact: Sylvie Radenne, MD; Phone Number: +33 (0)4 26 10 93 59; Email: sylvie.radenne@chu-lyon.fr
    • Contact: Isabelle Delfour; Phone Number: (0)4 26 73 27 25; Email: isabelle.delfour@chu-lyon.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

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.

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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	During the routine visit (Day 1)

Collaborators and Investigators

• Sponsor: Hospices Civils de Lyon
• Investigators: Principal Investigator: Sylvie Radenne, MD, Hospices Civils de Lyon

Study record dates

Study Major Dates

• Study Start: October 1, 2015
• Primary Completion (Anticipated): October 1, 2017
• Study Completion (Anticipated): March 1, 2018

Study Registration Dates

• First Submitted: July 28, 2016
• First Submitted That Met QC Criteria: July 28, 2016
• First Posted (Estimate): August 2, 2016

Study Record Updates

• Last Update Posted (Estimate): August 2, 2016
• Last Update Submitted That Met QC Criteria: July 28, 2016
• Last Verified: July 1, 2016

More Information

Terms related to this study

• Keywords: transplant; liver; Lysosomal Acid Lipase
• Additional Relevant MeSH Terms: Metabolic Diseases; Infant, Newborn, Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Lipidoses; Lipid Metabolism, Inborn Errors; Cholesterol Ester Storage Disease; Wolman Disease
• Other Study ID Numbers: 69HCL16_0428