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

NCT ID: NCT04858191

Last Updated: 2023-10-23

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 16 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2021-09-01
• Study Completion Date: 2023-06-30

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.

Conditions

Primary Ciliary Dyskinesia

Study Design

• Observational Model Type: OTHER
• Study Time Perspective: PROSPECTIVE

Study Groups

Pediatric PCD

Pediatric participants with PCD

No interventions assigned to this group

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

• Minimum Eligible Age: 6 Years
• Maximum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Provincial Health Services Authority

OTHER

Sponsor Role: collaborator

The Hospital for Sick Children

OTHER

Sponsor Role: lead

Responsible Party

Felix Ratjen

Principle investigator

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

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

Role: PRINCIPAL_INVESTIGATOR

The Hospital for Sick Children

Locations

Hospital for Sick Children

Toronto, Ontario, Canada

Countries

Canada

Other Identifiers

1000068639

Identifier Type: -

Identifier Source: org_study_id