ACORN v1.0
Research type
Research Study
Full title
A C9orf72 HRE+ National Register and Characterisation Study
IRAS ID
321766
Contact name
Alexander G. Thompson
Contact email
Sponsor organisation
University of Oxford / Research Governance, Ethics and Assurance
Duration of Study in the UK
4 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 known as C9orf72, which is the cause of the diseases Amyotrophic Lateral Sclerosis (ALS; also known as motor neuron disease or MND) and Frontotemporal Dementia (FTD) in some people with these conditions. To carry out the study, we will take samples from and perform scans of the nervous system of 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.
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 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 (cerebrospinal fluid) as well as brain scans and electrical nerve tests, provide a window into the changes that cause the disease. This will help our understanding of why people develop ALS and FTD, and to better monitor response to treatments during future drug trials. Eventually, all of this knowledge may contribute towards the development of new treatments for the C9orf72 gene abnormality and ALS and FTD in general.
REC name
London - Surrey Research Ethics Committee
REC reference
23/LO/0507
Date of REC Opinion
26 Jul 2023
REC opinion
Further Information Favourable Opinion