Utilizing Hyperpolarized 129Xe Magnetic Resonance Imaging in Children With Primary Ciliary Dyskinesia (PCD MRI)

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.

Study Overview

• Status: Completed
• Conditions: Primary Ciliary Dyskinesia

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.

• Study Type: Observational
• Enrollment (Actual): 16

Contacts and Locations

• Study Contact: Name: Wallace Wee, MD; Phone Number: 416-813-5587; Email: wallace.wee@sickkids.ca

Study Locations

• Canada
  • Ontario
    • Toronto, Ontario, Canada, M5G1X8
      • Hospital for Sick Children

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 6 years to 18 years (Child, Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

Patients aged 6-18 with primary ciliary dyskinesia

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Other
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Pediatric PCD; Pediatric participants with PCD

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: The Hospital for Sick Children
• Collaborators: Provincial Health Services Authority
• Investigators: Principal Investigator: Felix Ratjen, MD, PhD, FRCP(C), FERS, The Hospital for Sick Children

Study record dates

Study Major Dates

• Study Start (Actual): September 1, 2021
• Primary Completion (Actual): June 30, 2023
• Study Completion (Actual): June 30, 2023

Study Registration Dates

• First Submitted: March 25, 2021
• First Submitted That Met QC Criteria: April 20, 2021
• First Posted (Actual): April 26, 2021

Study Record Updates

• Last Update Posted (Actual): October 23, 2023
• Last Update Submitted That Met QC Criteria: October 19, 2023
• Last Verified: October 1, 2023

More Information

Terms related to this study

• Keywords: Pulmonary Exacerbation; Lung; Xenon MRI
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Respiratory Tract Diseases; Neurologic Manifestations; Congenital Abnormalities; Genetic Diseases, Inborn; Otorhinolaryngologic Diseases; Movement Disorders; Abnormalities, Multiple; Ciliopathies; Dyskinesias; Ciliary Motility Disorders
• Other Study ID Numbers: 1000068639

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: Data will be shared between two participating sites for this study. A data transfer agreement will be created and implemented to ensure smooth transfer of data
• IPD Sharing Time Frame: The data will be available after enrolling the first participant and will be available for the duration of the study.
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; SAP; ICF; CSR

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No