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

This study is not yet open for participant recruitment. (see Contacts and Locations)
Verified February 2013 by Ziv Hospital
Sponsor:
Information provided by (Responsible Party):
Assy Nimer, Ziv Hospital
ClinicalTrials.gov Identifier:
NCT01791452
First received: February 10, 2013
Last updated: February 13, 2013
Last verified: February 2013
  Purpose

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
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)

  Eligibility

Ages Eligible for Study:   18 Years to 80 Years
Genders Eligible for Study:   Both
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.

Criteria

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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01791452

Contacts
Contact: Nimer Assy, M +972-4-6828442 assy.n@ziv.health.gov.il

Locations
Israel
Assy Nimer Not yet recruiting
Safed, Israel, 13100
Contact: Assy Nimer, MD    +972-4-6828442    assy.n@ziv.health.gov.il   
Sponsors and Collaborators
Assy Nimer
  More Information

No publications provided

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

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

ClinicalTrials.gov processed this record on July 20, 2014