Status:
COMPLETED
Functional Studies of Novel Genes Mutated in Primary Ciliary Dyskinesia II: Genotype to Phenotype
Lead Sponsor:
University of North Carolina, Chapel Hill
Collaborating Sponsors:
National Heart, Lung, and Blood Institute (NHLBI)
Conditions:
Primary Ciliary Dyskinesia
Eligibility:
All Genders
12-90 years
Phase:
EARLY_PHASE1
Brief Summary
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, and compare to healt...
Detailed Description
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 ...
Eligibility Criteria
Inclusion
- Inclusion Criteria for PCD Patients
- 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
- Inclusion Criteria for Healthy Controls:
- Age ≥ 18 years old
- Subjects must have an Forced vital capacity (FVC), Forced Expiratory Volume in one second (FEV1) and FVC/FEV1 of at least 80% of predicted.
- Subjects who fall out of the normal range will be offered a copy of the test to share with their personal physician.
- No pre-existing lung disease (asthma, cystic fibrosis, etc.).
- Negative pregnancy test for females who are not s/p hysterectomy with oophorectomy.
- 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.
- 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 Live Attenuated Influenza Vaccine (LAIV), 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.
Exclusion
Key Trial Info
Start Date :
June 10 2021
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
July 22 2024
Estimated Enrollment :
27 Patients enrolled
Trial Details
Trial ID
NCT04901715
Start Date
June 10 2021
End Date
July 22 2024
Last Update
September 5 2025
Active Locations (1)
Enter a location and click search to find clinical trials sorted by distance.
1
University of North Carolina Chapel Hill
Chapel Hill, North Carolina, United States, 27514