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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 recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified February 2013 by Ziv Hospital.
Recruitment status was:  Not yet recruiting
Information provided by (Responsible Party):
Assy Nimer, Ziv Hospital Identifier:
First received: February 10, 2013
Last updated: February 13, 2013
Last verified: February 2013
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.

Non-alcoholic Fatty Liver Disease
Cholesterol Ester Storage Disease

Study Type: Observational
Study Design: Time Perspective: Prospective

Resource links provided by NLM:

Further study details as provided by Ziv Hospital:

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

Estimated Primary Completion Date: February 2014 (Final data collection date for primary outcome measure)


Ages Eligible for Study:   18 Years to 80 Years   (Adult, Senior)
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
  Contacts and Locations
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Please refer to this study by its identifier: NCT01791452

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

Assy Nimer Not yet recruiting
Safed, Israel, 13100
Contact: Assy Nimer, MD    +972-4-6828442   
Sponsors and Collaborators
Assy Nimer
  More Information

Responsible Party: Assy Nimer, MD, Ziv Hospital Identifier: NCT01791452     History of Changes
Other Study ID Numbers: 0042-12-ZIV
Study First Received: February 10, 2013
Last Updated: February 13, 2013

Additional relevant MeSH terms:
Liver Diseases
Non-alcoholic Fatty Liver Disease
Metabolic Diseases
Wolman Disease
Cholesterol Ester Storage Disease
Digestive System Diseases
Lipid Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Infant, Newborn, Diseases
Lipid Metabolism Disorders
Fatty Liver
Metabolism, Inborn Errors processed this record on April 24, 2017