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

NCT ID: NCT02852304

Last Updated: 2016-08-02

Basic Information

• Recruitment Status: UNKNOWN
• Total Enrollment: 100 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2015-10-31
• Study Completion Date: 2018-03-31

Brief 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.

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Eligibility Criteria

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.

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Hospices Civils de Lyon

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Sylvie Radenne, MD

Role: PRINCIPAL_INVESTIGATOR

Hospices Civils de Lyon

Locations

Hépato-Gastro-Entérologie, Hôpital de la Croix Rousse, 103 gde rue de la Croix Rousse

Lyon, , France

Site Status: RECRUITING

Countries

France

Central Contacts

Sylvie Radenne, MD

Role: CONTACT

sylvie.radenne@chu-lyon.fr

(0)4 26 10 93 59 ext. +33

Isabelle Delfour

Role: CONTACT

isabelle.delfour@chu-lyon.fr

(0)4 26 73 27 25 ext. +33

Facility Contacts

Sylvie Radenne, MD

Role: primary

sylvie.radenne@chu-lyon.fr

(0)4 26 10 93 59 ext. +33

Isabelle Delfour

Role: backup

isabelle.delfour@chu-lyon.fr

(0)4 26 73 27 25

Other Identifiers

69HCL16_0428

Identifier Type: -

Identifier Source: org_study_id