To learn more about the relationship between the genetic and environmental (non-genetic) risk factors that lead to MND.
Currently, the exact cause of MND is unknown and the only known risk factors are male sex, increasing age and a family history of the disease, while certain risk genes including changes in the C9orf72 and SOD1 genes are linked to MND.
The aim of this study is to further our understanding of the exact causes of MND. In particular, it looks at how lifestyle factors interact with changes in risk genes like C9orf72 and SOD1 to cause MND.
Over three years, the study team aim to recruit approximately 50-100 people with MND who have a change in the C9orf72 or SOD1 genes, and a further 100-200 family members who have changes in the C9orf72 or SOD1 genes but do not have symptoms of MND.
The study will involve a one-off virtual interview using a questionnaire. Participants will be asked some additional questions about medical history and lifestyle. The data collected will be stored confidentially by the University of Sheffield.
It is hoped that the study will enable researchers to learn more about the relationship between the genetic and environmental (non-genetic) risk factors that lead to MND. This will also allow them to develop personalised medicine interventions, potential preventative strategies and provide guidance to genetically at-risk families.
Taking Part
What does taking part involve?
The study will involve a one-off video interview, which will require a computer, laptop or tablet. Participants will be asked about certain important life events to complete a ‘life calendar’. This will be referred to this during the questionnaire to help remind participants of what they were doing at specific times of their life. Participants will then answer questions from the main part of the questionnaire, to explore their lifestyle at different time periods of their life. Finally, a cognitive assessment will be completed. In total, it is anticipated that this will take around 1½ - 2 hours.
Who can take part?
- People with MND who have a change in the C9orf72 gene (C9-MND) or SOD1 gene (SOD1-MND)
- Family members who have changes in the C9orf72 or SOD1 genes but do not yet have symptoms of MND
- Aged 18+
If you have cognitive changes or frontotemporal dementia (FTD), unfortunately you will not be eligible to take part.
How can I take part?
To register interest in taking part in the study or find out more information, please contact Gergo Erdi-Krausz on [email protected].
The study team in Sheffield, led by Professor Dame Pamela Shaw and Dr Johnathan Cooper-Knock, will then send you a formal invitation to participate and provide further information.
Study location
UK-wide/USA
Funding
This project is funded by My Name’5 Doddie Foundation.