ACORN
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
Patients with MND
Patients with FTD
Family members of people with MND or FTD
Healthy volunteers
Study partners
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)
Location
Oxford
Contact details
Email Daniel Plotkin: daniel.plotkin@ndcn.ox.ac.uk
Inclusion / exclusion criteria
Inclusion criteria
Participant is willing and able to give informed consent for participation in the study, or an appropriate consultee can be identified to provide advice about his/her friend or relative’s inclusion in the study.
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 degree genetic relative of a C9orf72 positive ALS or FTD patient
Additional criterion for healthy volunteers:
No family history of MND or FTD
Additional criterion for study partners:
Has known the study participant for a minimum of two years prior to entry into the study
Is in sufficiently regular contact with the study participant to be able to complete the study partner interview and questionnaires (judgment regarding this criterion shall be made by the Chief Investigator (CI) in each case)
Exclusion criteria
Age < 18 years
Any condition that, in the opinion of the investigator, could interfere with the interpretation of the study results.
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
Any 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):
Significant orthopnea or secretions, defined as subjectively intolerable breathlessness on lying flat or oxygen saturations below 90% on lying flat for 10 minutes
Severe physical disability that might preclude accessing the scanner or prevent communication of any distress during testing or presence of any incompatible (or possibly incompatible) metal implants or large tattoos suspected to contain iron pigments
Additional criterion for MEG:
The weight of the participant cannot exceed 125kg/275lbs
Funder
Alan Davidson Foundation, NIHR Oxford Biomedical Research Centre
Sponsor
University of Oxford
Study design
Observational