Functional Studies of Novel Genes Mutated in Primary Ciliary Dyskinesia II: Genotype to Phenotype

  • End date
    Apr 30, 2024
  • participants needed
  • sponsor
    University of North Carolina, Chapel Hill
Updated on 4 October 2022


The purpose of this study is to measure mucociliary clearance (MCC) in groups of subjects with the disease Primary Ciliary Dyskinesia (PCD) caused by mutations in different genes. Some of these genes are associated with a milder clinical phenotype. This study seeks to determine if the milder phenotype is a result of mutations in a set of specific genes. The hypothesis is that subjects with PCD caused by mutations in the milder group will maintain a low, but significant rate of mucociliary clearance, while patients with mutations in genes in the more severe group will have a complete absence of mucociliary clearance. These studies will help inform future treatment strategies.


Participants will undergo screening with basic physical exam and lung function testing at the start of the study. Participants will then inhale a radiolabeled substance and undergo medical imaging to measure the clearance of mucus in the airways. Albuterol will be administered after the first imaging is completed. Lung function testing will be repeated. Finally, medical imaging will be repeated two more times to further look at clearance of mucus in the lungs. The study will be completed in one day and will last about 6 hours.

Condition Primary Ciliary Dyskinesia
Treatment Albuterol, Technetium99m - Sulfur Colloid (Tc99m-SC)
Clinical Study IdentifierNCT04901715
SponsorUniversity of North Carolina, Chapel Hill
Last Modified on4 October 2022


Yes No Not Sure

Inclusion Criteria

Confirmed PCD diagnosis with identified genetic mutations
Negative pregnancy test for females who are not s/p hysterectomy with oophorectomy
Forced Expiratory Volume (FEV1) of at least 30 percent of predicted

Exclusion Criteria

Any chronic medical condition considered by the PI as a contraindication to the exposure study including significant cardiovascular disease, diabetes, chronic renal disease, chronic thyroid disease, immunodeficiency, history of tuberculosis
Any acute infection requiring antibiotics within 4 weeks of study
Mental illness or history of drug or alcohol abuse that, in the opinion of the investigator, would interfere with the participant's ability to comply with study requirements
Medications which may impact the results of the study treatment, or may interfere with any other medications potentially used in the study (to include steroids, beta antagonists, non-steroidal anti-inflammatory agents)
Active smoking to include e-cigarettes within 1 year of the study, or lifetime of > 10 pack years of smoking
History of vaping or current vaping
Allergy/sensitivity to study drugs, or their formulations
Viral upper respiratory tract infection within 4 weeks of challenge
Radiation exposure history in the past year which would be outside the safe levels
Pregnant or lactating women will also be excluded since the risks associated with radiation are unknown and cannot be justified
Use of the following medications
Use of beta blocking medications
Receipt of LAIV (Live Attenuated Influenza Vaccine), also known as FluMist , within the prior 30 days, or any vaccine within the prior 5 days
Multivitamins, Vitamin C or E or herbal medications in the 4 days prior to the treatment visit
Non-steroidal anti-inflammatory drugs in the 4 days prior to the treatment visit
Allergy/sensitivity to study drugs or their formulations
Known Immunoglobulin E (IgE) mediated hypersensitivity to albuterol
Physical/laboratory indications
Temperature > 37.8 degrees Celsius (C)
Subjects >15 years- Systolic BP >150 mm hg or < 90 mm Hg or diastolic BP> 90 mm Hg or < 50 and Subjects 12-15 years - Systolic BP > 130 mmHg or < 80 mmHg or diastolic BP > 80 or <40
Oxygen saturation of < 93 percent
Inability or unwillingness of a participant to give written informed consent
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