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

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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
Sponsor:
Information provided by (Responsible Party):
Hospices Civils de Lyon

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).


Condition or disease
Patients Waiting for a Liver Transplant.

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Study Type : Observational
Estimated Enrollment : 100 participants
Observational Model: Cohort
Time Perspective: Prospective
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





Primary Outcome Measures :
  1. 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
Few drops of blood absorbed onto blotting paper for enzymatic analysis


Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02852304


Contacts
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Contact: Sylvie Radenne, MD (0)4 26 10 93 59 ext +33 sylvie.radenne@chu-lyon.fr
Contact: Isabelle Delfour (0)4 26 73 27 25 ext +33 isabelle.delfour@chu-lyon.fr

Locations
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France
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    sylvie.radenne@chu-lyon.fr   
Contact: Isabelle Delfour    (0)4 26 73 27 25    isabelle.delfour@chu-lyon.fr   
Sponsors and Collaborators
Hospices Civils de Lyon
Investigators
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Principal Investigator: Sylvie Radenne, MD Hospices Civils de Lyon

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Responsible Party: Hospices Civils de Lyon
ClinicalTrials.gov Identifier: NCT02852304     History of Changes
Other Study ID Numbers: 69HCL16_0428
First Posted: August 2, 2016    Key Record Dates
Last Update Posted: August 2, 2016
Last Verified: July 2016

Keywords provided by Hospices Civils de Lyon:
liver
transplant
Lysosomal Acid Lipase

Additional relevant MeSH terms:
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Wolman Disease
Cholesterol Ester Storage Disease
Lipidoses
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Infant, Newborn, Diseases
Lipid Metabolism Disorders
Metabolic Diseases