Utilizing Hyperpolarized 129Xe Magnetic Resonance Imaging in Children With Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia (PCD) is an autosomal recessive inherited disorder caused by defects in ciliary structure and/or function. Prevention or delaying disease progression requires medical therapies and routine lung function monitoring, with the goal of early initiation of medical therapies. Of course, this is contingent on recognizing early lung disease.

Current investigations for monitoring lung disease include pulmonary function tests (PFT), chest x rays and chest CTs. But each of these modalities are either not sensitive enough or expose the patient to ionizing radiation.

The investigators believe that hyperpolarized 129Xe MRI (HP Xe-MRI), new imaging modality, will be more sensitive then current tests and also avoid the need for ionizing radiation. To evaluate this, The investigators will compare HP Xe-MRI to PFT, when the patient is well and during a pulmonary exacerbation that is being treated.

Inclusion criteria

• Diagnosis of PCD as having either (i) biallelic mutations in known PCD genes or (ii) classic transmission electron microscopy structural ciliary defect
• Informed consent and verbal assent (as appropriate) provided by the participant's parent or legal guardian and the participant
• Ages 6-18 years and able to perform reproducible spirometry and achieve a breath hold duration sufficient for MRI acquisition

Exclusion criteria

• Any other cardiac or respiratory disease
• Inability to perform a breath-hold of adequate duration for MRI acquisition
• Medical instability that would preclude the ability to undergo the required investigations
• FEV1 % predicted <40% on any PFT within last 2 months at time of consent
• Use of supplementary oxygen
• Severe claustrophobia
• Pregnancy or lactation
• Presence of metal implants or other MRI contraindications