Natural history of Familial Chylomicronaemia Syndrome
Research type
Research Study
Full title
A Comparison of the Natural History of Patients with and without Familial Chylomicronaemia Syndrome (FCS).
IRAS ID
224563
Contact name
Handrean Soran
Contact email
Sponsor organisation
Central Manchester University Hospitals NHS Foundation Trust
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
Fats in the body have to be broken down by enzymes in order for them to be used for normal bodily functions. The enzymes responsible for processing large fat particles called chylomicrons include lipoprotein lipase (LpL), ApoC2, lipase mutation factor 1 (LMF1), apoA5 and glycophosphatidylinositol-anchored high-density lipoprotein binding protein 1 (GPIHBP1). If one of these enzymes is absent or is reduced in activity, fats will not be broken down properly and will accumulate abnormally in the body. A gene mutation causing any of the fat-processing enzymes to be deficient results in familial chylomicronaemia syndrome (FCS) and typically leads to raised levels of chylomicrons which are measured in the blood as triglycerides. The type of gene mutation for FCS is ‘recessive’ which means that an offspring will only express the condition if 2 affected genes are inherited. High levels of chylomicrons can cause inflammation of the pancreas (pancreatitis) and can also be associated with diabetes and heart disease. FCS is a rare inherited disease and is not well understood. \nThis study aims to examine the natural history of participants with FCS and compare it with participants without FCS to gain more knowledge of the condition. The study is coordinated from Central Manchester University Hospitals NHS Foundation Trust and will recruit the following cohorts of patients:\n•\tPatients with confirmed FCS \n•\tPatients with low LpL activity without previous genetic testing will be offered testing\n•\tPatients with raised triglycerides levels without positive genetic testing\n•\tControl patients without hypertriglyceridaemia\nThe study is non-interventional and participants consent to having their medical records examined and relevant information collected by the research team. The study is expected to be completed in 5 years.\n
REC name
North West - Greater Manchester South Research Ethics Committee
REC reference
17/NW/0230
Date of REC Opinion
13 Jun 2017
REC opinion
Further Information Favourable Opinion