MND GENETICS
Research type
Research Study
Full title
Next Generation Genetic Screening in Motor Neuron Disease
IRAS ID
209851
Contact name
Pietro Fratta
Contact email
Sponsor organisation
University College London
Clinicaltrials.gov Identifier
Z6364106, Data Protection Ref
Duration of Study in the UK
4 years, 11 months, 28 days
Research summary
Motor neuron diseases (MND) are a group of progressive incurable neurodegenerative disorders. A number of genetic defects have been identified as causative for MND although the cause of the majority of cases is still unknown.The only drug shown to modify disease course is riluzole, which has a significant, but modest effect of prolonging survival of two to three months (Miller et al. 2012). Novel therapaeutic strategies are currently aiming at targeting the primary genetic defects that cause MND, making rapid and efficient genetic screening crucial for future therapeutic strategies.
We propose to genetically screen 200 participants with a suspected, possible, probable or definite diagnosis of ALS or diagnosed with other MND variants, and blood related family members in a rapid and effective way. This process will be fully integrated with the clinical diagnostic laboratory at the NHNN. This program will benefit both patients and clinical research.
The benefits this program will bring to MND patient care in the NHS and to MND research are the following:
1) Set the foundation for an effective rapid genetic screening in the UK that will facilitate trials for gene-specific therapeutic approaches;
2) Provide a comprehensive research genetic report that can, following targeted validation, be communicated to patients who wish to receive feedback from the genetic screening;
3) Recruit patients for specific research studies, based on their genetic stratification;
4) Apply genetic findings to all research results from collected biosamples in ongoing biomarker studies (blood, CSF, fibroblasts, etc.);
5) Allow researchers to focus further more costly genetic research on a smaller selected number of samples;
6) Guarantee diagnostic standards for extraction and storage of patient DNAs, for future use of patients themselves or family members for diagnostic purposes.REC name
London - Fulham Research Ethics Committee
REC reference
18/LO/0679
Date of REC Opinion
23 Apr 2018
REC opinion
Favourable Opinion