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

NCT ID: NCT01791452

Last Updated: 2013-02-15

Basic Information

• Recruitment Status: UNKNOWN
• Study Classification: OBSERVATIONAL

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.

Conditions

Non-alcoholic Fatty Liver Disease; Cholesterol Ester Storage Disease

Study Design

• Study Time Perspective: PROSPECTIVE

Study Groups

NAFLD

No interventions assigned to this group

Eligibility 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

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 80 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Assy Nimer

OTHER_GOV

Sponsor Role: lead

Responsible Party

Assy Nimer

MD

Responsibility Role: SPONSOR_INVESTIGATOR

Locations

Assy Nimer

Safed, Israel, Israel

Countries

Israel

Central Contacts

Nimer Assy, M

Role: CONTACT

assy.n@ziv.health.gov.il

+972-4-6828442

Facility Contacts

Assy Nimer, MD

Role: primary

assy.n@ziv.health.gov.il

+972-4-6828442

Other Identifiers

0042-12-ZIV

Identifier Type: -

Identifier Source: org_study_id