ACORN study

Study aims

People who have a specific genetic change, known as the C9orf72 hexanucleotide repeat expansion, are at higher risk of developing amyotrophic lateral sclerosis (ALS, also known as motor neuron disease, MND) or a rare form of dementia called frontotemporal dementia (FTD).

The ACORN study aims to understand how the C9orf72 gene expansion causes ALS and FTD in some but not all carriers, and the timing if so. ACORN involves people from all over the UK who are known to have ALS or FTD caused by the C9orf72 genetic change. It also involves their close relatives (e.g. siblings or adult children) who may or may not be at higher risk of future ALS or FTD. With their permission, ACORN will develop a register of people who carry, or who are at risk of carrying the C9orf72 gene expansion, and who are keen to take part in research. These studies will define disease markers and predictors. Importantly this research can be done without relatives needing to know their own genetic status.

ACORN will lay the groundwork for the development of better treatments for those affected by ALS or FTD due to the C9orf72 gene expansion, but also ways to try to prevent disease in unaffected relatives at higher risk in later life. 

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

or

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)

or

3. Have apparently sporadic MND or FTD (known not to be genetic)

or

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: acorn@ndcn.ox.ac.uk 

 PARTICIPANT INFORMATION SHEETS

VIEW THE ACORN STUDY PARTICIPANT INFORMATION SHEET - Participants with MND/FTD and confirmed C9orf72 expansion

VIEW THE ACORN STUDY PARTICIPANT INFORMATION SHEET - Asymptomatic first degree family Members

VIEW THE ACORN STUDY PARTICIPANT INFORMATION SHEET - Healthy Volunteers

VIEW THE ACORN STUDY PARTICIPANT INFORMATION SHEET - Study Partners

For more information, or to register your interest in participating in the ACORN study, please contact the research team by email at: acorn@ndcn.ox.ac.uk

FUNDERS

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

acorn@ndcn.ox.ac.uk

This study has been approved by:

London - Surrey Research Ethics Committee   Reference: 23/LO/0507 

Scotland A Research Ethics Committee   Reference: 23/SS/0097