Genetic Basis of Motor Neurone Disease
Research type
Research Study
Full title
Investigating the Genetic Contribution to Motor Neuron Disease via Screening of Incident Symptomatic Cases and At Risk Individuals
IRAS ID
141830
Contact name
Kevin Talbot
Contact email
Sponsor organisation
University of Oxford
Duration of Study in the UK
5 years, 0 months, 0 days
Research summary
We propose to offer all patients diagnosed with amyotrophic lateral sclerosis (ALS or MND), frontotemporal dementia (FTD) and other related disorders at the Oxford Motor Neuron Disease Centre, a genetic test for relevant mutations. In addition we wish to extend this testing to individuals considered at high risk of developing ALS in the future in light of their family history.
MND is a progressive neurological disease without effective treatment. The illness causes severe disability through incremental weakness of affected body regions and is typically fatal through respiratory compromise. Familial MND makes up a minority (~10%) of cases and a dozen different gene mutations have now been identified, dominated numerically by mutations in C9ORF72 and SOD1.
Identification of this genetic substrate is central to the existing and planned research at Oxford. Furthermore future clinical trials may well recruit specifically from one genetic subgroup. Importantly, patients and their families will have the option to learn their own genetic background. This helps patients to understand why the illness has affected them and allows family members to shape their own future plans.
REC name
South Central - Berkshire Research Ethics Committee
REC reference
15/SC/0469
Date of REC Opinion
28 Sep 2015
REC opinion
Further Information Favourable Opinion