People who have a changed version of a gene known as C9orf72 are at increased risk of developing MND or frontotemporal dementia (FTD). The ACORN study aims to understand why having a changed version of the C9orf72 gene causes MND and FTD, who is at highest risk of developing MND or FTD and what we can do to prevent people with changes in the C9orf72 gene developing MND or FTD.

ACORN involves people living with MND or FTD which is caused by an expansion (where a section of DNA is repeated many times) in the C9orf72 gene, and their close family members who do not have MND or FTD. The study includes creating a national register of people from families affected by changes in the C9orf72 gene to enable further research participation. 

 

Taking Part

What does taking part involve?

Everyone who takes part will be asked to complete a brief health questionnaire and provide a small blood sample. You might be asked to provide other samples or undergo other tests including:

  • Further blood samples
  • Skin sample
  • Cerebrospinal fluid (CSF) sample (taken by lumbar puncture)
  • MRI scan
  • MEG scan (to measure brain activity using a helmet)
  • Non-invasive neurophysiological testing (using electrodes attached to the surface of the skin)
  • Activity monitoring


You can choose which samples you are willing to donate, and which scans and tests you are willing to complete. You may be asked to give samples or undergo tests on multiple occasions, but you do not have to do this more than once. Not everyone will be asked to take part in all aspects of the studies. You will have to travel to Oxford for some study visits. 
 

Who can take part?
  • People with MND or FTD who have a confirmed expansion in the C9orf72 gene
  • People with a parent, sibling, or child who is confirmed to have an expansion in the C9orf72 gene. You do not need to know if you also have an expansion in the C9orf72 gene.
  • People with MND or FTD which is not known to be genetic
  • People who have no family history of MND or FTD and wish to be a healthy volunteer
     

How can I take part?

To find out more, visit the study website, or email the team at [email protected]

Study Location

Oxford

Funding

Alan Davidson Foundation

Recruiting

UK wide

Funding

NIHR Oxford Biomedical Research Centre
Hide