C9orf72 Cohort Study
Research type
Research Study
Full title
A study to characterise C9orf72 patients and asymptomatic carriers
IRAS ID
214658
Contact name
Kevin Talbot
Contact email
Sponsor organisation
University of Oxford
Duration of Study in the UK
1 years, 11 months, 30 days
Research summary
The purpose of this study is to investigate possible causes of nerve damage in patients carrying a genetic abnormality in the gene C9orf72. The abnormality in the C9orf72 gene is known to cause Amyotrophic Lateral Sclerosis (ALS; also known as motor neuron disease or MND) and the related condition Frontotemporal Dementia (FTD). To carry out the study, we need to obtain blood and other biological samples from carriers of the C9orf72 gene abnormality who have ALS or FTD, as well as their family members who do not have ALS or FTD symptoms. Identification of why patients carrying the abnormality develop ALS and FTD may help us in the future to find treatments to help prevent these conditions.
The C9orf72 abnormality is the most common genetic cause of ALS and FTD and is present from birth in patients who carry it. By studying biological samples from patients and relatives, we can gain an understanding of the processes that are at work in this inherited form of ALS and FTD. Samples from blood and the fluid that surrounds the brain as well as brain imaging and electrical nerve tests, provide a window into the changes that are driving the disease at a molecular level. This will help us to increase our understanding of the biological markers that are relevant to the mutation and eventually help us to better monitor response to treatments during future trials. Eventually, all of this knowledge may contribute towards the development of new treatments for the C9orf72 gene mutation and ALS and FTD in general.
REC name
South Central - Oxford C Research Ethics Committee
REC reference
17/SC/0277
Date of REC Opinion
6 Jun 2017
REC opinion
Favourable Opinion