Screening for LALD in liver patients
Research type
Research Study
Full title
Screening for lysosomal acid lipase deficiency in patients who have had investigative liver biopsy and who have been diagnosed with non-alcoholic steatohepatitis (NASH), non-alcoholic fatty liver disease (NAFLD) and cryptogenic cirrhosis
IRAS ID
209537
Contact name
Handrean Soran
Contact email
Sponsor organisation
Central Manchester University Hospitals NHS Foundation Trust
Duration of Study in the UK
2 years, 0 months, 3 days
Research summary
Lysosomal acid lipase (LAL) is an important enzyme which breaks down fats (cholesterol) in the body. Deficiency of LAL (LALD) leads to raised levels of cholesterol in the blood and an accumulation of fat particularly in the liver, eventually damaging the organ.
The aim of this study is to determine the prevalence of lysosomal acid lipase deficiency in patients with abnormally raised liver enzymes.Patients are invited to take part in the study if they have had a liver biopsy within the last 5 years and the biopsy results have features suggestive of LALD. Patients who have not had liver biopsy but who have been diagnosed with liver conditions such as non-alcoholic steatohepatitis (NASH), non-alcoholic fatty liver disease (NAFLD) and cryptogenic cirrhosis are also invited to participate.
Patients who agree to take part in the study will have a small blood sample taken ( 3mls) to measure LAL activity. Blood samples of patients who have results that are consistent with LALD will be sent for genetic testing to confirm the diagnosis.REC name
North West - Greater Manchester Central Research Ethics Committee
REC reference
17/NW/0321
Date of REC Opinion
11 Jul 2017
REC opinion
Further Information Favourable Opinion