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

Phase 1

Recruiting

• Conditions: Primary Ciliary Dyskinesia

• Registration Number: NCT04901715
• Lead Sponsor: University of North Carolina, Chapel Hill

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2021-5-19
• Last Update Posted: 2 September 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: All
• Target Recruitment: 30

Inclusion Criteria

Inclusion Criteria for PCD Patients<br><br> - Confirmed PCD diagnosis with identified genetic mutations<br><br> - Negative pregnancy test for females who are not s/p hysterectomy with oophorectomy<br><br> - Forced Expiratory Volume (FEV1) of at least 30 percent of predicted<br><br>Inclusion Criteria for Healthy Controls:<br><br> - Age = 18 years old<br><br> - Subjects must have an FVC, FEV1 and FVC/FEV1 of at least 80% of predicted. Subjects<br> who fall out of the normal range will be offered a copy of the test to share with<br> their personal physician.<br><br> - No pre-existing lung disease (asthma, cystic fibrosis, etc.).<br><br> - Negative pregnancy test for females who are not s/p hysterectomy with oophorectomy.<br><br>Exclusion Criteria:<br><br> - Any chronic medical condition considered by the PI as a contraindication to the<br> exposure study including significant cardiovascular disease, diabetes, chronic renal<br> disease, chronic thyroid disease, immunodeficiency, history of tuberculosis<br><br> - Any acute infection requiring antibiotics within 4 weeks of study.<br><br> - Mental illness or history of drug or alcohol abuse that, in the opinion of the<br> investigator, would interfere with the participant's ability to comply with study<br> requirements.<br><br> - Medications which may impact the results of the study treatment, or may interfere<br> with any other medications potentially used in the study (to include steroids, beta<br> antagonists, non-steroidal anti-inflammatory agents)<br><br> - Active smoking to include e-cigarettes within 1 year of the study, or lifetime of ><br> 10 pack years of smoking<br><br> - History of vaping or current vaping.<br><br> - Viral upper respiratory tract infection within 4 weeks of challenge.<br><br> - Radiation exposure history in the past year which would be outside the safe levels<br><br> - Pregnant or lactating women will also be excluded since the risks associated with<br> radiation are unknown and cannot be justified<br><br> - Use of the following medications:<br><br> 1. Use of beta blocking medications<br><br> 2. Receipt of LAIV (Live Attenuated Influenza Vaccine), also known as FluMist ,<br> within the prior 30 days, or any vaccine within the prior 5 days<br><br> 3. Multivitamins, Vitamin C or E or herbal medications in the 4 days prior to the<br> treatment visit<br><br> 4. Non-steroidal anti-inflammatory drugs in the 4 days prior to the treatment<br> visit.<br><br> - Allergy/sensitivity to study drugs or their formulations:<br><br> - Known Immunoglobulin E (IgE) mediated hypersensitivity to albuterol<br><br> - Physical/laboratory indications:<br><br> 1. Temperature > 37.8 degrees Celsius (C)<br><br> 2. Subjects >15 years- Systolic BP >150 mm hg or < 90 mm Hg or diastolic BP> 90 mm<br> Hg or < 50 and Subjects 12-15 years - Systolic BP > 130 mmHg or < 80 mmHg or<br> diastolic BP > 80 or <40<br><br> 3. Oxygen saturation of < 93 percent<br><br> - Inability or unwillingness of a participant to give written informed consent.

Exclusion Criteria

Not provided

Study & Design

• Study Type: Interventional
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Baseline MCC (Ave60Clr; average clearance over 60 minutes)

Secondary Outcome Measures

Name	Time	Method
Change in MCC (Ave120Clr-Ave60Clr;average clearance between 60 and 120 minutes)