C9orf72 cohort study

Collecting biological samples to search for causes of C9orf72-related MND

The purpose of this study is to investigate possible causes of nerve damage in patients with a fault in a gene known as C9orf72. This faulty gene is known to cause Amyotrophic Lateral Sclerosis (ALS; also known as motor neuron disease or MND) and a linked condition called Frontotemporal Dementia (FTD). Finding out why some people carrying the faulty C9orf72 gene develop ALS or FTD may help us in the future to find treatments to help prevent these conditions.

What does taking part involve?

Taking part involves visiting the University of Oxford to take part in some or all of the following:

  • physical and cognitive assessment
  • Blood sample
  • Cerebrospinal fluid (CSF) sample
  • MRI scan
  • Magnetoencephalography (MEG) scan
  • Surface EMG

You do not necessarily have to take part in all aspects of the study.

Study location

University of Oxford, Oxford

Who can take part?

  • People known to carry a faulty C9orf72 gene
  • People who have an immediate family member (e.g., parent, sibling, child) known to carry a faulty C9orf72 gene
  • People who are not related to anyone who has had ALS/MND or FTD


How do I take part?

Please contact lynn.ossher@ndcn.ox.ac.uk or call 01865 227714 for more information.

Expiry date: N/A

For further information and support contact our MND Connect helpline

mndconnect 0808 802 6262