Optimizing lung imaging in people with Ataxia Telangiectasia applying improved MRI techniques.

Almost all children and adults with Ataxia Telangiectasia (AT) suffer from
recurrent or chronic lung disorders. This is due to their muscle weakness,
immunological disorders and increased frequency of oncological disorders and
interstitial lung disease.
Respiratory morbidity constitutes a large burden for these patients and their
families or caretakers, may cause severe symptoms and is the main cause of
death. In order to improve treatment, it is necessary to be able to diagnose
and monitor the condition of the lung. Lung function measurements are too
difficult to carry out reliably for many people with AT, and imaging of the
lungs with conventional radiology of the chest involves ionizing radiation that
should be avoided whenever possible because patients with AT suffer from DNA
repair disorders, increasing the risk of developing malignancies. Magnetic
Resonance Imaging (MRI) does not involve ionizing radiation and improved MRI of
the lungs would be the ideal tool to obtain reliable structural information
about the lungs. However, MRI was not very suitable for lung imaging till
recently because of poor resolution and contrasts, MRI is not a quick procedure
and patients with AT often have uncoordinated movements that preclude optimal
imaging.

The purpose of this research project is to improve the overall quality and
resolution of the MRI images, to correct for movement effects during the
procedure and to speed up the investigation. The goal is to enhance and
standardize a technique suitable for routine clinical care of patients with AT,
also the severe and the young.

This is an observational study in 2 parts in which we: (part 1) validate and
optimize the quality of MRI imaging of the lungs by comparisons with imaging
using CT scan in a group of patients 6 years of age and older with various
chronic lung diseases (mainly with Cystic Fibrosis) who undergo a diagnostic CT
scan for their routine patient care; (2) improve the resolution of MRI imaging
of the lungs in patients with Ataxia Telangiectasia (AT) who exhibit
involuntary movements that complicate imaging.

Prior to the study described here, an MRI protocol for lung imaging will be
developed and optimized on a group of adult healthy volunteers and adult fairly
healthy patients with lung diseases. In this way we expect to diminish the
burden on the paediatric patients.
However, as the group of AT patient consists mainly of children, the final
version of the MRI lung protocol has to be optimized in children and
adolescents in which a smaller field of view is necessary and MR relaxation
times of tissue differ from those of adults.

The burden of patients who undergo one additional MR imaging session are the
duration of the procedure (approximately half an hour) and the noise of the
scanner. To minimize this burden, proper ear protection will be used and, if
needed, some children will be trained in the *dummy MRI system* present at the
department of Paediatrics. There are no risks involved. There are no additional
hospital visits involved since MR and CT imaging in patients with chronic lung
disease (study part 1) will be conducted on the same day.

The benefit of the patients who participate in the study will be that after the
completion of the study, they will benefit themselves from the enhanced thorax
imaging that is then possible with MRI, instead of being exposed to ionizing
radiation. This applies both to patients with and without AT, since in both
populations, less ionizing radiation will be applied for their routine patient
care after completion of this study. Especially for patients with AT (study
part 2), this will be a new and unique development in imaging and monitoring
lung disease without using ionizing radiation. This is very relevant for these
patients since they easily develop malignancies when exposed to ionizing
radiation as used by the CT scan and Chest X-ray (due to their impaired DNA
repair capacity).