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Novel Association of Cholesterol Ester Storage Disease Due to Lysosomal Acid Lipase Deficiency and Non-Alcoholic Fatty Liver Disease: A Prospective Clinical Study

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01791452
Recruitment Status : Unknown
Verified February 2013 by Assy Nimer, Ziv Hospital.
Recruitment status was:  Not yet recruiting
First Posted : February 15, 2013
Last Update Posted : February 15, 2013
Information provided by (Responsible Party):
Assy Nimer, Ziv Hospital

Brief Summary:
Non-alcoholic fatty liver disease (NAFLD) is a world-wide problem with a global prevalence estimated at 1.5 billion people. It is characterised by significant diversity and phenotypic heterogeneity. Morbidity rates are estimated at 20% to 30% in Western adults, increasing to 90% in patients who are morbidly obese or diabetic. Risk factors in non-obese NAFLD patients are of especial practical and theoretical importance. Cholesterol Ester Storage Disease (CESD) is an autosomal recessive chronic disease of variable phenotype, caused by a deficiency in lysosomal acid lipase (LAL) and characterized by accumulation of fat in tissues and organs. Hepatic accumulation of fat in this disorder can cause hepatomegaly with varying degrees of damage varying from steatosis to fibrosis, elevated aminotransaminases, and isolated splenomegaly. Since the contribution of LAL deficiency to non-obese NAFLD is poorly understood, the investigators propose to evaluating the association between NAFLD and LAL deficiency in a prospective study in our population.

Condition or disease
Non-alcoholic Fatty Liver Disease Cholesterol Ester Storage Disease

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Study Type : Observational
Time Perspective: Prospective
Estimated Primary Completion Date : February 2014


Primary Outcome Measures :
  1. liver ultrasound, ultrasound Doppler of the common carotid artery, hepatic Fibroscan evaluation (transient elastography) for assessment of steatosis and fibrosis [ Time Frame: year ]

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 80 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
400 subjects will be enrolled and informed consent obtained. After clinical evaluation, subjects will undergo liver ultrasound, non-invasive liver elastography (Fibroscan) and standard biochemical evaluation including glucose, insulin, TG, HDL, LDL, leptin, adiponectin and TNF-alpha. They will then be divided into 2 groups: NAFLD, and NAFLD with fibrosis (NASH). In addition a cohort of healthy volunteers will also be studied. LAL activity in dry blood spots (DBS) will be measured using the substrate 4-methylumbelliferyl palmitate. LAL activity will be measured by measuring total lipase activity and lipase activity in the presence of Lalistat2.

Inclusion Criteria:

  • Age between 18-80 years;
  • BMI 25-40;
  • Fatty liver disease (bright liver, hepatomegaly by ultrasound (Liver span > 15 cm mid clavicle line), splenomegaly (>13 cm) or both.

Exclusion Criteria:

  • Alcohol abuse>30 gm/day, or > 70 gram per week;
  • Soft drink abuse;
  • Drugs known to cause fatty liver;
  • Chronic hepatitis (B and C);
  • Biliary liver disease;
  • Autoimmune hepatitis;
  • HIV;
  • Genetic/Metabolic liver disease (Wilson, alpha-1 antitrypsin, CF);
  • Failure to give informed consent

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 identifier (NCT number): NCT01791452

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Contact: Nimer Assy, M +972-4-6828442

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Assy Nimer
Safed, Israel, 13100
Contact: Assy Nimer, MD    +972-4-6828442   
Sponsors and Collaborators
Assy Nimer
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Responsible Party: Assy Nimer, MD, Ziv Hospital Identifier: NCT01791452    
Other Study ID Numbers: 0042-12-ZIV
First Posted: February 15, 2013    Key Record Dates
Last Update Posted: February 15, 2013
Last Verified: February 2013
Additional relevant MeSH terms:
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Liver Diseases
Non-alcoholic Fatty Liver Disease
Cholesterol Ester Storage Disease
Digestive System Diseases
Metabolic Diseases
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Lipid Metabolism Disorders
Fatty Liver
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors