CF BioResource project – understanding your cystic fibrosis

Everyone who has cystic fibrosis has one fault or another in both of their CF genes. But that’s where the similarity ends.

 There are over 2,000 different types of fault (or mutation) in the CF gene. The current CFTR modulators can correct the most common of these faults, but we know there are around 1 in 10 people with CF in the UK who are unable to benefit from the current medicines.

Also, we know that CF affects everyone differently. Even two children with the same parents may have different symptoms, numbers of infections, complications or longevity despite similar treatment options. For example, some of those differences may be caused by natural, small differences in other (non-CF) genes. But we don’t know enough about which genes these are or how or when they exert their effects.

To develop treatments for the rare forms of CF and tailor personalised treatments for each individual living with CF, researchers need to use genetic information to help them approach the right volunteers for future research studies and clinical trials. Currently this genetic information is not easily available, adding time and expense to new research, which can slow down or even put doctors, scientists and pharmaceutical companies off from starting CF research studies and clinical trials.

NIHR BioResource logoThe aim of a new resource is to help overcome this problem. The cystic fibrosis project within the National Institute for Health Research (NIHR) BioResource – Rare Diseases study (‘CF BioResource project’ for short) is to create a register of people with CF who have agreed to be contacted about research, based on their genetic make up. This would make it much quicker and easier for researchers and doctors to find the volunteers they need for their studies. People with CF who share their DNA sample are likely to be invited to volunteer for both research studies related to CF and about other disease areas (unrelated to CF).

It is an approach the NIHR BioResource is already using to help researchers better understand different diseases and conditions and develop new treatments for them.

The first stage of the CF BioResource project is to create the resource. We will be asking people with CF to take part by agreeing to be part of the NIHR BioResource – Rare Diseases study, by sharing a blood sample and information about themselves. You will be provided with a Participant Information Leaflet and Consent Form and you can decide whether you wish to join.

CF BioResource project explained in more detail

Martin, one of the Trust’s Trial Ambassadors who has CF spoke to the Principal Investigators of the CF BioResource project, Professor Alex Horsley and Professor Andres Floto to find out more about it. The conversation was facilitated by the Trust’s Involvement manager Lorna Allen.

What is the CF BioResource project all about?

The CF BioResource project will make more research possible, such as understanding why CF is varied within the same family. This information could be used to help manage people’s CF in the future, and new avenues for treatment. The Principal Investigators are excited about the difference the research could make for the CF community and attracting CF research studies into the UK.

How will it work?

The genetic information together with existing data from the UK CF Registry is what makes this project so exciting. Once someone has agreed to join the CF BioResource project they may be invited to take part in new research studies. The research may or may not be related to CF. It will be up to the individual on whether they choose to take part. We will benefit from the expertise and experience of the NIHR BioResource in facilitating these studies.

How can I get involved?

People will be able to take part in the CF BioResource project through their CF Centre. Once people have agreed to take part (given their consent), a small blood sample will be taken and sent off to the NIHR BioResource. The sample can be taken at the same time as taking other blood samples, so it won’t require an extra needle. Volunteers might be asked to provide a further sample if there is a problem extracting DNA from the original sample they provide.

Why is Martin getting involved?

People will be approached about the CF BioResource project during their CF clinic visits, where Centres within our Trials Accelerator programme will be set up first.

We anticipate the first centres will open in November 2021 and we will keep our Trials Tracker up to date as additional centres open. You can register your interest in taking part now by emailing [email protected] .

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