Clinical trial NCT04858191: Utilizing Hyperpolarized 129Xe Magnetic Resonance Imaging in Children With Primary Ciliary Dyskinesia
Official title: Utilizing Hyperpolarized 129Xe Magnetic Resonance Imaging in Children With Primary Ciliary Dyskinesia
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Primary Ciliary Dyskinesia
Keywords: Xenon MRI
Lung
Pulmonary Exacerbation
Lead sponsor: The Hospital for Sick Children
Sponsor class: OTHER
Collaborators: name: Provincial Health Services Authority
First posted: 2021-04-26
Enrollment: 16
Sex: ALL
Minimum age (years): 6
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Patients aged 6-18 with primary ciliary dyskinesia

Brief summary: 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: 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.

Eligibility criteria: 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

Primary outcomes:
measure: Ventilation Defect Percentage (VDP)
timeFrame: Within 1 year of study initiation
measure: Ventilation Defect Percentage (VDP)
timeFrame: Within 1 week of initial test
measure: Ventilation Defect Percentage (VDP)
timeFrame: Within 48 hours of pulmonary exacerbation diagnosis
measure: Ventilation Defect Percentage (VDP)
timeFrame: Within 48 hours of antibiotic completion
Secondary outcomes:
measure: Pulmonary function tests (PFTs)
timeFrame: Within 1 year of study initiation
measure: Pulmonary function tests (PFTs)
timeFrame: Within 1 week of initial test
measure: Pulmonary function tests (PFTs)
timeFrame: Within 48 hours of pulmonary exacerbation diagnosis
measure: Pulmonary function tests (PFTs)
timeFrame: Within 48 hours of antibiotic completion
Other outcomes:
Locations:
city: Toronto
country: Canada
facility: Hospital for Sick Children
state: Ontario
Study officials:
affiliation: The Hospital for Sick Children
name: Felix Ratjen, MD, PhD, FRCP(C), FERS
role: PRINCIPAL_INVESTIGATOR
References: