Examining Bronchial Hyperresponsiveness in Primary Ciliary Dyskinesia

NCT07288827 | Recruiting

• 1 other identifier: 16122
• Study Type: interventional
• Target: 40
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study is to look at children with PCD and see if they have another condition called "bronchial hyperresponsiveness".

Conditions

Primary Ciliary Dyskinesia; Healthy

Keywords

Primary Ciliary Dyskinesia; bronchial hyperresponsiveness

Outcome Measures

Primary Outcomes (4)

• Bronchial Hyperresponsiveness prevalence

  Examine how many subjects with PCD have bronchial hyperresponsiveness as evidenced by an increase in FEV1 of 10% or greater during pre- and post- max bronchodilator test.

  From spirometry baseline measurement (Visit 2) to completion of post-max bronchodilator test (Visit 2) (<1hr)

• Bronchial Hyperresponsiveness prevalence

  Examine how many subjects with PCD have bronchial hyperresponsiveness as evidenced by a decline in FEV1 by 20% from baseline during methacholine challenge test.

  From spirometry baseline measurement (Visit 3) to completion of methacholine challenge test (Visit 3) (<1hr)

• Bronchial Hyperresponsiveness prevalence

  Examine how many healthy subjects have bronchial hyperresponsiveness as evidenced by an increase in FEV1 of 10% or greater during pre- and post- max bronchodilator test.

  From spirometry baseline measurement (Visit 2) to completion of post-max bronchodilator test (Visit 2) (<1hr)

• Bronchial Hyperresponsiveness prevalence comparison

  Compare the prevalence of bronchial hyperresponsiveness (examined in Outcome 1, Outcome 2) in PCD subjects to bronchial hyperresponsiveness in age- and gender-matched healthy controls.

  From first Visit 2 baseline measurement of first subject enrolled to either: last Visit 3 visit of PCD subject who may complete Visit 3; or last Visit 2 visit of PCD subject or Healthy subject, whichever comes latest in enrollment (up to five years)

Secondary Outcomes (2)

• Data Collection of PCD genotype/phenotype

  From first Visit 2 baseline measurement of first subject enrolled to either: last Visit 3 visit of PCD subject who may complete Visit 3; or last Visit 2 visit of PCD subject or Healthy subject, whichever comes latest in enrollment (up to five years)

• Analysis of the relationship between PCD and atopy

  From first Visit 2 baseline measurement of first subject enrolled to either: last Visit 3 visit of PCD subject who may complete Visit 3; or last Visit 2 visit of PCD subject or Healthy subject, whichever comes latest in enrollment (up to five years)

Study Arms (2)

Subjects with Primary Ciliary Dyskinesia

EXPERIMENTAL

Subjects will come to Riley Hospital for Children for at least two visits with the opportunity for a third visit. Each visit should take between 2 and 2.5 hours. During the visits, subjects will complete multiple breathing tests, inhale certain medications, complete a family history questionnaire, have skin allergy testing, and do a blood draw.

Procedure: Lung Function Testing; Procedure: Phlebotomy; Procedure: Allergy skin prick testing; Procedure: Methacholine Challenge

Healthy Subjects

EXPERIMENTAL

Subjects will come to Riley Hospital for Children for at least two visits with the opportunity for a third visit. Each visit should take between 2 and 2.5 hours. During the visits, subjects will complete multiple breathing tests, inhale certain medications, complete a family history questionnaire, have skin allergy testing, and do a blood draw.

Procedure: Lung Function Testing; Procedure: Phlebotomy; Procedure: Allergy skin prick testing; Procedure: Methacholine Challenge

Interventions

Lung Function Testing PROCEDURE

will include baseline spirometry (pre- and post- max bronchodilator). All testing will be done according to American Thoracic Society/European Respiratory Society guidelines. Participants will be asked to refrain from taking any asthma medications, including inhaled corticosteroids, short- and long-acting bronchodilators, leukotriene receptor antagonists, and long-acting muscarinic antagonists, for 24 hours prior to any spirometry. This activity will take place at a clinical research center at the respective participating institution.

Also known as: spirometry

Healthy Subjects; Subjects with Primary Ciliary Dyskinesia

Phlebotomy PROCEDURE

will be obtained at visit 2. Up to ten (10) ml of blood will be collected for measurement of serum biomarkers of atopy, based on whether participants prefer to receive an allergy skin prick test or have antigen-specific IgE levels tested. In the event a subject refuses phlebotomy, historical results up to one year old may be used in lieu of prospective results. Any remaining blood samples will be banked either for use in future studies or in the event that additional serum biomarkers are added to this study.

Also known as: blood draw

Healthy Subjects; Subjects with Primary Ciliary Dyskinesia

Allergy skin prick testing PROCEDURE

may be completed at visit 2. Subjects will be instructed to withhold first-generation antihistamines for 3 days and second-generation antihistamines for 7 days prior to the test. If patients prefer to have serum antigen-specific IgE levels run with the required serum biomarkers of atopy, then skin prick testing will be omitted.

Healthy Subjects; Subjects with Primary Ciliary Dyskinesia

Methacholine Challenge PROCEDURE

If the subject does not demonstrate a bronchodilator response in FEV1 of 10% or greater, and does not have a historical MCT on file, MCT will be performed. Following inhalation of saline, methacholine (MCh) will be inhaled in quadrupling concentrations starting with 0.0625 mg/ml and continuing until the MCh concentration required for FEV1 to decrease by 20% from baseline (PD20) is achieved or a maximum MCh concentration of 16 mg/ml is inhaled.

Also known as: MCT

Healthy Subjects; Subjects with Primary Ciliary Dyskinesia

Eligibility Criteria

• Age: 6 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Confirmed diagnosis of PCD per standard diagnostic criteria4 and positive genetics
• Age greater than or equal to 6 years (no upper age limit)
• Any gender or race
• Able to perform pulmonary function testing (historical documentation of reversibility will be accepted)

You may not qualify if:

• history of current pneumothorax
• inability to perform pulmonary function testing

Sponsors & Collaborators

• Indiana University: lead

Study Sites (1)

Riley Hospital for Children

Indianapolis, Indiana, 46202, United States

RECRUITING

MeSH Terms

Conditions

Ciliary Motility Disorders; Bronchial Hyperreactivity

Interventions

Phlebotomy; Blood Specimen Collection

Condition Hierarchy (Ancestors)

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

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Therapeutics; Surgical Procedures, Operative; Investigative Techniques

Central Study Contacts

Fanmuyi Yang, PhD

CONTACT

317-274-8895; fy5@iu.edu

Lisa Bendy

CONTACT

317-278-7152; lbendy@iu.edu

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Clinical Pediatrics

Model Details: Subjects with Primary Ciliary Dyskinesia and Healthy subjects (controls)

Study Record Dates

• First Submitted: November 20, 2025
• First Posted: December 17, 2025
• Study Start: May 4, 2023
• Primary Completion (Estimated): April 30, 2028
• Study Completion (Estimated): April 30, 2028
• Last Updated: December 17, 2025

Record last verified: 2025-11

Locations

US (1)