Exercise and Neurodegeneration Related to G4C2 Expansion of C9ORF72
Research type
Research Study
Full title
The Role of Exercise in Modifying Neurodegeneration Related to G4C2 Repeat Expansion of C9ORF72.
IRAS ID
189432
Contact name
Johnathan Cooper-Knock
Contact email
Sponsor organisation
Sheffield Teaching Hospitals NHS Foundation Trust
Duration of Study in the UK
0 years, 11 months, 26 days
Research summary
Motor neurone disease (MND) is a severe condition caused by damage to the nervous system. MND often progresses rapidly, resulting in weakness of the limbs and difficulty with speech, swallowing and breathing. Unfortunately, at present, there are few effective treatments for MND and patients usually die within 3 years of onset. The causes of MND are unknown; however, people with certain gene mutations are more likely to be affected by this fatal condition. The most common abnormality found in patients with MND is an increased number of G4C2 repeats in the C9ORF72 gene.
It has been proposed that physical activity (PA) increases the risk of MND. However, studies so far have been inconclusive. It is for this reason that we aim to undertake a study investigating previous levels of PA in people with the C9ORF72 mutation, both with MND and healthy volunteers. Over one year, we will recruit approximately 30 patients newly diagnosed with MND who are known to have the C9ORF72 mutation. We will conduct interviews with each patient using a questionnaire which measures PA throughout a person’s adult life. We will compare this with information previously collected from healthy volunteers who also share the C9ORF72 mutation but do not have MND.
We propose that the mutation in the C9ORF72 gene in combination with participation in a high level of PA is associated with an increased risk of MND. As a result, we hope to gain greater insight into a condition that remains ambiguous. Ultimately, by increasing our understanding of MND, this will hopefully contribute to the development of new treatments for a currently fatal condition.REC name
North West - Liverpool Central Research Ethics Committee
REC reference
15/NW/0836
Date of REC Opinion
26 Oct 2015
REC opinion
Further Information Favourable Opinion