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

Primary Ciliary Dyskinesia Clinical Trial

— PCD MRI  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04858191
• Other study ID #: 1000068639
• Status: Completed
• Start date: September 1, 2021
• Est. completion date: June 30, 2023

Study information

• Verified date: October 2023
• Source: The Hospital for Sick Children
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 16
• Est. completion date: June 30, 2023
• Est. primary completion date: June 30, 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: 6 Years to 18 Years

Eligibility

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

Related Conditions & MeSH terms

• Ciliary Motility Disorders
• Dyskinesias
• Primary Ciliary Dyskinesia

Locations

Country	Name	City	State
Canada	Hospital for Sick Children	Toronto	Ontario

Sponsors (2)

Lead Sponsor	Collaborator
The Hospital for Sick Children	Provincial Health Services Authority

Country where clinical trial is conducted

Canada, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Ventilation Defect Percentage (VDP)	Reliability; initial test	Within 1 year of study initiation
Primary	Ventilation Defect Percentage (VDP)	Reliability; re-test	Within 1 week of initial test
Primary	Ventilation Defect Percentage (VDP)	VDP within 48h of pulmonary exacerbation diagnosis	Within 48 hours of pulmonary exacerbation diagnosis
Primary	Ventilation Defect Percentage (VDP)	VDP within 48h of antibiotic completion	Within 48 hours of antibiotic completion
Secondary	Pulmonary function tests (PFTs)	Reliability; initial test	Within 1 year of study initiation
Secondary	Pulmonary function tests (PFTs)	Reliability; re-test	Within 1 week of initial test
Secondary	Pulmonary function tests (PFTs)	PFT within 48h of pulmonary exaction diagnosis	Within 48 hours of pulmonary exacerbation diagnosis
Secondary	Pulmonary function tests (PFTs)	PFT within 48h of antibiotic completion	Within 48 hours of antibiotic completion