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 the C9orf72 gene are linked with 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 risk genes like C9orf72 to cause MND. 

Over three years, the study team aim to recruit approximately 50-100 people with MND who have a C9orf72 mutation, and a further 100-200 family members who have tested positive for the C9orf72 gene 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 C9orf72 mutation (C9-MND)
  • Family members who carry the C9orf72 gene but do not yet have symptoms of MND 
  • Aged 18+

If you have 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 Dave O'Brien 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.