Clinical trial NCT02852304: Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant.
Official title: Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant.
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Patients Waiting for a Liver Transplant.
Keywords: liver
transplant
Lysosomal Acid Lipase
Lead sponsor: Hospices Civils de Lyon
Sponsor class: OTHER
First posted: 2016-08-02
Enrollment: 100
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

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).


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.

Primary outcomes:
measure: Deficiency Lysosomal Acid Lipase prevalence in patients waiting for a liver transplant
timeFrame: During the routine visit (Day 1)
Secondary outcomes:
Other outcomes:
Locations:
city: Lyon
country: France
facility: Hépato-Gastro-Entérologie, Hôpital de la Croix Rousse, 103 gde rue de la Croix Rousse
Study officials:
affiliation: Hospices Civils de Lyon
name: Sylvie Radenne, MD
role: PRINCIPAL_INVESTIGATOR
References: