Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant. (LALTH-1)
|ClinicalTrials.gov Identifier: NCT02852304|
Recruitment Status : Unknown
Verified July 2016 by Hospices Civils de Lyon.
Recruitment status was: Recruiting
First Posted : August 2, 2016
Last Update Posted : August 2, 2016
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).
|Condition or disease|
|Patients Waiting for a Liver Transplant.|
|Study Type :||Observational|
|Estimated Enrollment :||100 participants|
|Official Title:||Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant.|
|Study Start Date :||October 2015|
|Estimated Primary Completion Date :||October 2017|
|Estimated Study Completion Date :||March 2018|
- 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
Biospecimen Retention: Samples Without DNA
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02852304
|Contact: Sylvie Radenne, MD||(0)4 26 10 93 59 ext +email@example.com|
|Contact: Isabelle Delfour||(0)4 26 73 27 25 ext +firstname.lastname@example.org|
|Hépato-Gastro-Entérologie, Hôpital de la Croix Rousse, 103 gde rue de la Croix Rousse||Recruiting|
|Lyon, France, 69004|
|Contact: Sylvie Radenne, MD (0)4 26 10 93 59 ext +33 email@example.com|
|Contact: Isabelle Delfour (0)4 26 73 27 25 firstname.lastname@example.org|
|Principal Investigator:||Sylvie Radenne, MD||Hospices Civils de Lyon|