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The purpose of this study is to look at children with PCD and see if they have another condition called "bronchial hyperresponsiveness".
The purpose of this study is to look at children with PCD and see if they have another condition called "bronchial hyperresponsiveness". This is when some of the air tubes ("bronchi") are very sensitive ("hyperresponsive") to certain things in the environment such as pollen, mold, pet dander, changes in temperature, and viruses. Children with PCD are often prescribed daily inhaled steroids to help make their air tubes less sensitive, but there are few research studies showing that children with PCD really need this medication.
In this study, the investigators will simulate the above triggers for sensitive air tubes with a medication called methacholine. Checking how fast children can breathe out after giving methacholine is sometimes done when doctors think a child may have asthma, a condition where the breathing tubes are very sensitive. By measuring the participant's breathing before and after giving this medication, the investigators will see whether their air tubes are sensitive, or "hyperresponsive". It is possible that methacholine could make the participants temporarily feel short of breath or start wheezing. To avoid this, the investigators will start by giving a small dose of methacholine and measuring the participants breathing, then give larger amounts of methacholine until the investigators see certain changes in the participants breathing or until the largest dose allowed is reached. If the participant starts to have symptoms such as shortness of breath, chest tightness, or wheezing, the investigators will give them a medicine called albuterol which immediately opens the air tubes and makes the symptoms go away. Any discomfort caused by the methacholine is temporary and there are no long-term effects associated with using it.
If the participants agree to participate in the study, they 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, they will complete multiple breathing tests, inhale certain medications, complete a family history questionnaire, have skin allergy testing, and do a blood draw.
The investigators will also collect information about the participants from your medical record, including demographic information, medical history, and disease history. If they have completed pulmonary function testing (testing that shows how well lungs are working) in the past, they may only be eligible for Visit 1.
For scheduling convenience, visits 1 and 2 may occur on the same day. The participants will be in this study up to one month if they participate in visits 1 and 2, and up to five months if they are eligible for visit 3.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
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| 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. |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 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. |
| Measure | Description | Time Frame |
|---|---|---|
| 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) |
| Measure | Description | Time Frame |
|---|---|---|
| Data Collection of PCD genotype/phenotype | These data points will be a compilation of chronic rhinosinusitis, respiratory distress at birth, recurrent upper and lower airway infections, and/or fertility issues, serum biomarkers for atopy, and other clinical features and explore the relationship between PCD and bronchial hyperresponsiveness, which can manifest as coughing, wheezing, and/or chest tightness. |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Fanmuyi Yang, PhD | Contact | 317-274-8895 | fy5@iu.edu | |
| Lisa Bendy | Contact | 317-278-7152 | lbendy@iu.edu |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Riley Hospital for Children | Recruiting | Indianapolis | Indiana | 46202 | United States |
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| ID | Term |
|---|---|
| D002925 | Ciliary Motility Disorders |
| D016535 | Bronchial Hyperreactivity |
| ID | Term |
|---|---|
| D012140 | Respiratory Tract Diseases |
| D010038 | Otorhinolaryngologic Diseases |
| D000072661 | Ciliopathies |
| D000015 | Abnormalities, Multiple |
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| ID | Term |
|---|---|
| D018962 | Phlebotomy |
| D001800 | Blood Specimen Collection |
| ID | Term |
|---|---|
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
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Subjects with Primary Ciliary Dyskinesia and Healthy subjects (controls)
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| 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. |
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| 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. |
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| 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. |
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| 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 | This will address whether bronchial hyperresponsiveness in PCD is due to an underlying predisposition similar to that seen in asthma and whether it could relate to some other mechanism such as antigen mucostasis. | 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) |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D001982 | Bronchial Diseases |
| D011677 | Punctures |
| D013812 | Therapeutics |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |