CLipR
Research type
Research Study
Full title
C9orf72 Lipid Risk Study
IRAS ID
304004
Contact name
Alexander G Thompson
Contact email
Sponsor organisation
University of Oxford / Research Governance, Ethics and Assurance
Duration of Study in the UK
2 years, 0 months, 1 days
Research summary
Amyotrophic lateral sclerosis (ALS, also known as motor neurone disease, MND) is a neurological disease that causes worsening weakness leading to death. Levels of cholesterol in the blood are known to influence to the risk of developing ALS, with higher levels of LDL “bad” cholesterol and lower levels of HDL “good” cholesterol being associated with increased risk of developing ALS. Some cases of ALS and the related disease frontotemporal dementia (FTD) are caused by a genetic abnormality known as C9orf72 hexanucleotide repeat expansion (HRE), an abnormal repeating section of DNA. It is possible that cholesterol levels affect what age people with this genetic abnormality will develop ALS or FTD, though this is not yet known. This study will collect historical measurements of cholesterol taken from people with this genetic abnormality before they develop ALS or FTD taken as part of their normal medical care to understand whether cholesterol does affect the age at which ALS and FTD start. This might lead to considering treatment to lower cholesterol in order to try and delay when symptoms of ALS or FTD start in people who carry the C9orf72 HRE. We will also collect information about other blood measurements that might help us to predict when people with this genetic abnormality might be about to develop symptoms of ALS or FTD.
The underlying causes of ALS are not known, but several studies have indicated that differences in markers of fat and sugar metabolism such as cholesterol are present in people who will go on to develop ALS many years before they are diagnosed with ALS compared with people of a similar age who do not. These markers are tested frequently during routine health screening by GPs. It has also been shown that some of these markers change over time. It is not known how these metabolic biomarker changes relate to when the symptoms start or whether these changes are different in people who carry genetic abnormalities that cause ALS.This study will use blood test data collected from patients with ALS as part of routine care, including those taken before they develop symptoms of ALS to study these changes over time in more detail and in relation to when their symptoms develop and with or without a genetic abnormality. This will help understand whether these changes are an early sign of the disease or whether they alter the risk of developing the disease and might help to develop treatments to delay the onset of ALS in those at high risk.
REC name
South Central - Hampshire A Research Ethics Committee
REC reference
24/SC/0410
Date of REC Opinion
4 Feb 2025
REC opinion
Further Information Favourable Opinion