C9orf72 cohort study

A study to characterise C9orf72 patients and asymptomatic carriers

UK Chief Investigator

Professor Kevin Talbot

Research summary

The purpose of this study is to investigate possible causes of nerve damage in patients carrying a genetic abnormality in the gene C9orf72. The abnormality in the C9orf72 gene is known to cause amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND), and the related condition frontotemporal dementia (FTD).

To carry out the study, we need to obtain blood and other biological samples from carriers of the C9orf72 gene abnormality who have ALS or FTD, as well as their family members who do not have ALS or FTD symptoms. Identification of why patients carrying the abnormality develop ALS and FTD may help us in the future to find treatments to help prevent these conditions.

The C9orf72 abnormality is the most common genetic cause of ALS and FTD and is present from birth in patients who carry it.

By studying biological samples from patients and relatives, we can gain an understanding of the processes that are at work in this inherited form of ALS and FTD. Samples from blood and the fluid that surrounds the brain as well as brain imaging and electrical nerve tests, provide a window into the changes that are driving the disease at a molecular level. This will help us to increase our understanding of the biological markers that are relevant to the mutation and better monitor response to treatments during future trials.

Eventually, all of this knowledge may contribute towards the development of new treatments for the C9orf72 gene mutation and ALS and FTD in general.

Current status

Active – Recruiting

Key dates

Actual opening date: 5 March 2019

Recruitment planned end date: 30 June 2022

Recruitment groups

Recruitment targets

Click here to see how many patients have been recruited into this study to date (external link to the NIHR public study search) 


Main site: Oxford

Participant identification centres (invite participants to take part and refer those interested to the main site):

Information about study sites

Contact details

Lead site: Emma Harper

Email: emma.harper@ndcn.ox.ac.uk

Inclusion / exclusion criteria

Inclusion criteria

For all participants:

Additional criterion for patients with ALS:

Diagnosis made by experienced neurologist.

Additional criterion for patients with FTD:

Diagnosis made by experienced neurologist or psychiatrist.

Additional criterion for family members:

Known to have C9orf72 HRE mutation, or is a first or second-degree genetic relative of a C9orf72 positive ALS or FTD patient.

Additional criterion for healthy volunteers:

No family history of MND or FTD

Exclusion criteria

The participant may not enter the study if ANY of the following apply:

In addition to the general inclusion / exclusion criteria described above, the additional exclusion criteria apply for invasive procedures (skin biopsy and lumbar puncture):

Significant bleeding diathesis or sepsis, or other condition that in the opinion of the investigator could constitute a health risk to the participant if he/she took part in this element of the study.

In addition to the general inclusion/exclusion criteria described above, the additional exclusion criteria apply for imaging procedures (MRI):

In addition to the general inclusion / exclusion criteria described above, the additional exclusion criteria apply for non-invasive EMG:

An implantable cardioverter-defibrillator (ICD) device.



University of Oxford

Study design

Cross-sectional observational

Outcome measures

Clinical, biomarker and radiological characterisation of C9orf72 patients and asymptomatic carriers. Clinical database with multi-modal phenotyping data.