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

NCT04858191 | Completed

• 1 other identifier: 1000068639
• Study Type: observational
• Target: 16
• Locations: 1 country
• Sites: 1

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.

Conditions

Primary Ciliary Dyskinesia

Keywords

Xenon MRI; Lung; Pulmonary Exacerbation

Outcome Measures

Primary Outcomes (4)

• 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 Outcomes (4)

• Pulmonary function tests (PFTs)

  Within 1 year of study initiation

• Pulmonary function tests (PFTs)

  Within 1 week of initial test

• Pulmonary function tests (PFTs)

  Within 48 hours of pulmonary exacerbation diagnosis

• Pulmonary function tests (PFTs)

  Within 48 hours of antibiotic completion

Study Arms (1)

Pediatric PCD

Pediatric participants with PCD

Eligibility Criteria

• Age: 6 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Probability Sample

Study Population

Patients aged 6-18 with primary ciliary dyskinesia

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• The Hospital for Sick Children: lead
• Provincial Health Services Authority British Columbia: collaborator

Study Sites (1)

Hospital for Sick Children

Toronto, Ontario, M5G1X8, Canada

Location

MeSH Terms

Conditions

Ciliary Motility Disorders

Condition Hierarchy (Ancestors)

Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Ciliopathies; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Officials

• Felix Ratjen, MD, PhD, FRCP(C), FERS

  The Hospital for Sick Children

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principle investigator

Study Record Dates

• First Submitted: March 25, 2021
• First Posted: April 26, 2021
• Study Start: September 1, 2021
• Primary Completion: June 30, 2023
• Study Completion: June 30, 2023
• Last Updated: October 23, 2023

Record last verified: 2023-10

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF, CSR
• Time Frame: The data will be available after enrolling the first participant and will be available for the duration of the study.

Locations

CA (1)