Improving lung imaging in A-T patients

improving lunch imaging in A T patients

This research project is funded in partnership with Action for A-T.

The team at Radboud University Medical Centre in the Netherlands will study how they can develop improved lung imaging in ataxia telangiectasia (A-T) patients using advanced MRI techniques instead of conventional chest X-ray or CT imaging.

They want to get useable lung images while patients breathe normally instead of holding their breath. They also hope to create high quality images of the lungs even when patients are unable to remain completely motionless.

The need

Most children with A-T suffer from respiratory symptoms, recurrent or chronic lung disorders, which can often be fatal. Lung monitoring is needed to improve treatment. However, lung function measurements are difficult to carry out reliably for many people with A-T, and standard imaging techniques use ionising radiation which should be avoided whenever possible in A-T patients.

Magnetic Resonance Imaging (MRI) does not involve ionising radiation and improved MRI would be ideal to obtain reliable structural information about the lungs. However, until recently MRI was unreliable for lung imaging in A-T for several reasons: poor resolution and contrasts, time requirements, and patients with A-T often having uncoordinated or involuntary movements due to ataxia, which prevents optimal imaging.

About A-T

A-T is a rare and devastating condition caused by a genetic mutation.  Individuals with A-T are prone to developing infections and tumours. There is also increased risk of developing cancers like leukaemia and lymphoma. Life expectancy for these children is poor.

A-T is caused by a faulty gene that prevents the body from producing a protein called ATM. Approximately 100 children between the ages of two and 17 in the UK are currently affected by this syndrome and 12 new cases are diagnosed per year on average. There no cure at present.

Research methodology

This study is in two parts:

  1. The team will see how they can program the MRI scanner to get the best lung images compared with conventional CT lung scans. Subjects will be patients with lung disease who do not have A-T. The result of this first part will establish the best MRI settings for lung imaging.
  2. Next, they will explore how they can get good quality lung images using these settings, while correcting for breathing and other small patient movements. This will be carried out on patients with A-T.

The aim

With better lung images, doctors will be able to detect abnormalities earlier. Examples are: pneumonia, atelectasis (partial collapse of) of the lungs and bronchiectasis (scarring of airways). This research could produce a new and reliable tool for diagnosis and follow-up, meaning a major step forward in the respiratory management of people with A-T.

When safe and high quality imaging is possible, clinicians will be able to monitor the lungs regularly and be better informed about the presence and/or the progression of lung disease in A-T patients, and be better equipped to treat such conditions.

Lung disease is the most frequent cause of death in A-T therefore the team expect that clinicians will be able to better manage lung disease in those with A-T and that quality of life and prognosis will improve for children and adults with A-T.

Project overview
Improving lung imaging in A-T patients
Dr Peter Merkus
Radboud University Medical Centre, the Netherlands
Grant: £87,810

This research project is funded in partnership with Action for A-T.

Help fund more ground-breaking medical research for seriously ill children and their families.