The ACORN study will identify and characterise people with ALS (MND) or FTD and asymptomatic family members who carry the C9orf72 gene mutation, and create a national register of this cohort, facilitating further research and study participation.
People who carry a specific genetic change, known as C9orf72 hexanucleotide repeat expansion, are at high risk of developing amyotrophic lateral sclerosis (ALS, also known as motor neuron disease, MND) and a rare form of dementia called frontotemporal dementia (FTD).
The ACORN study will involve people who have MND or FTD due to the C9orf72 genetic change as well as family members of those affected. The study aims to understand why C9orf72 causes MND and FTD and develop ways of working out which people with the gene will develop MND or FTD and when that might happen. This will contribute to our understanding of MND and FTD and aid the development of treatment or prevention for MND and FTD due to C9orf72. ACORN will also develop a register of people who carry or are at risk of carrying C9orf72 who are keen to take part in other research studies.
WHO CAN TAKE PART IN THE STUDY?
You may be eligible for the ACORN study if:
You are aged 18 or over, able to provide consent yourself (or have a witness or consultee to witness or affirm consent on your behalf), and if you:
1. Have MND or FTD and it has been confirmed that you carry the C9orf72 gene expansion
2. Are a first degree relative (parent, sibling or child) of someone who carries/carried the C9orf72 gene expansion (you may or may not know if you yourself carry this expansion)
3. Have apparently sporadic MND or FTD (known not to be genetic)
4. Have NO family history of MND or FTD and wish to join the study as a healthy volunteer
Participants will be asked to designate a study partner who can provide information on their general health and wellbeing through the course of the study.
If you wish to discuss whether you are eligible for the study, please do not hesitate to get in touch with the research team by email at: firstname.lastname@example.org
PARTICIPANT INFORMATION SHEETS
For more information, or to register your interest in participating in the ACORN study, please contact the research team by email at: email@example.com
The study is funded by the Oxford NIHR Biomedical Research Centre (Preventive Neurology - Neurodegeneration theme), and through a generous multi-year gift from the Alan Davidson Foundation to the Oxford MND Care and Research Centre.
Get involved in other research
For information on getting involved in other general research supported by the Biomedical Research Centre at the University of Oxford, please visit their website at: Oxford NIHR Biomedical Research Centre.
A C9orf72 HRE+ National Register and Characterisation Study ('ACORN')
Funders: Oxford NIHR Biomedical Research Centre, Alan Davidson Foundation
Sponsor: University of Oxford
This study has been approved by:
London - Surrey Research Ethics Committee Reference: 23/LO/0507
Scotland A Research Ethics Committee Reference: 23/SS/0097