A C9orf72 HRE+ National Register and Characterisation Study

UK Chief Investigator

Dr Alex Thompson

Research summary

The purpose of this study is to investigate possible causes of nerve damage in patients carrying a genetic abnormality in the gene known as C9orf72, which is the cause of the diseases Amyotrophic Lateral Sclerosis (ALS; also known as motor neuron disease or MND) and Frontotemporal Dementia (FTD) in some people with these conditions. To carry out the study, we will take samples from and perform scans of the nervous system of 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.

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 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 (cerebrospinal fluid) as well as brain scans and electrical nerve tests, provide a window into the changes that cause the disease. This will help our understanding of why people develop ALS and FTD, and to better monitor response to treatments during future drug trials. Eventually, all of this knowledge may contribute towards the development of new treatments for the C9orf72 gene abnormality and ALS and FTD in general. 

Current status

Active – recruiting

Key dates

Actual opening date: 1st December 2023

Planned recruitment end date: 30th June 2028

Recruitment groups

Recruitment target

1,450 participants

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


Information about study sites

Contact details

Email Daniel Plotkin:

Inclusion / exclusion criteria

Inclusion criteria

Additional criterion for patients with ALS:

Additional criterion for patients with FTD:

Additional criterion for family members:

Additional criterion for healthy volunteers:

Additional criterion for study partners:

Exclusion criteria

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

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

Additional criterion for MEG:


Alan Davidson Foundation, NIHR Oxford Biomedical Research Centre


University of Oxford

Study design


More information, including the Participant Information Sheets, are available on the study website, available here: