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

Study Overview
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Brief Summary
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This study investigates the use of hyperpolarized 129Xe magnetic resonance imaging (MRI) in children with primary ciliary dyskinesia (PCD) in detecting ventilation defects. The investigators will establish the feasibility and reliability of this test and how it changes compared to other pulmonary function tests.

Detailed Description
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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.

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

Conditions
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Primary Ciliary Dyskinesia

Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 6 Years
Maximum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Pediatric PCD<br>Pediatric participants with PCD | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Ventilation Defect Percentage (VDP) | Reliability; initial test | Within 1 year of study initiation | 
| Ventilation Defect Percentage (VDP) | Reliability; re-test | Within 1 week of initial test | 
| Ventilation Defect Percentage (VDP) | VDP within 48h of pulmonary exacerbation diagnosis | Within 48 hours of pulmonary exacerbation diagnosis | 
| Ventilation Defect Percentage (VDP) | VDP within 48h of antibiotic completion | Within 48 hours of antibiotic completion | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Pulmonary function tests (PFTs) | Reliability; initial test | Within 1 year of study initiation | 
| Pulmonary function tests (PFTs) | Reliability; re-test | Within 1 week of initial test | 
| Pulmonary function tests (PFTs) | PFT within 48h of pulmonary exaction diagnosis | Within 48 hours of pulmonary exacerbation diagnosis | 
| Pulmonary function tests (PFTs) | PFT within 48h of antibiotic completion | Within 48 hours of antibiotic completion | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Xenon MRI, Lung, Pulmonary Exacerbation