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

Patients Waiting for a Liver Transplant. Clinical Trial

— LALTH-1  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02852304
• Other study ID #: 69HCL16_0428
• Status: Recruiting
• Phase: N/A
• First received: July 28, 2016
• Last updated: July 28, 2016
• Start date: October 2015
• Est. completion date: March 2018

Study information

• Verified date: July 2016
• Source: Hospices Civils de Lyon
• Contact: Sylvie Radenne, MD
• Phone: (0)4 26 10 93 59
• Email: sylvie.radenne[@]chu-lyon.fr
• Is FDA regulated: No
• Health authority: France: Commission nationale de l'informatique et des libertés
• Study type: Observational

Clinical Trial 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).

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 100
• Est. completion date: March 2018
• Est. primary completion date: October 2017
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 18 Years and older

Eligibility

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 Design

Observational Model: Cohort, Time Perspective: Prospective

Related Conditions & MeSH terms

• Patients Waiting for a Liver Transplant.
• Wolman Disease

Locations

Country	Name	City	State
France	Hépato-Gastro-Entérologie, Hôpital de la Croix Rousse, 103 gde rue de la Croix Rousse	Lyon

Sponsors (1)

Lead Sponsor	Collaborator
Hospices Civils de Lyon

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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)	No