Measuring mucus clearance in patients with Primary Ciliary Dyskinesia
Functional Studies of Novel Genes Mutated in Primary Ciliary Dyskinesia II: Genotype to Phenotype
This study is testing how well mucus clears from the lungs in people with Primary Ciliary Dyskinesia caused by specific gene mutations, compared to healthy individuals, to help improve future treatments.
Quick facts
| Phase | Early Phase 1 |
|---|---|
| Study type | Interventional |
| Enrollment | 30 (estimated) |
| Ages | 12 Years to 90 Years |
| Sex | All |
| Sponsor | University of North Carolina, Chapel Hill Academic / other |
| Drugs / interventions | Radiation |
| Locations | 1 site (Chapel Hill, North Carolina) |
| Trial ID | NCT04901715 on ClinicalTrials.gov |
What this trial studies
This study aims to evaluate mucociliary clearance (MCC) in individuals with Primary Ciliary Dyskinesia (PCD) caused by mutations in specific genes, comparing their results to healthy subjects. Participants will undergo lung function tests and inhale a radiolabeled substance for medical imaging to assess mucus clearance in the airways. The study will also involve administering albuterol and repeating imaging to gather comprehensive data on mucus clearance. The goal is to determine if certain genetic mutations correlate with milder clinical phenotypes and to inform future treatment strategies.
Who should consider this trial
Good fit: Ideal candidates include adults with a confirmed diagnosis of Primary Ciliary Dyskinesia and identified genetic mutations.
Not a fit: Patients with chronic medical conditions that contraindicate participation or those with acute infections may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and treatment options for patients with Primary Ciliary Dyskinesia.
How similar studies have performed: Other studies have shown success in understanding genetic influences on disease severity, making this approach promising.
Eligibility criteria
Show full inclusion / exclusion criteria
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 FVC, 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: 1. Use of beta blocking medications 2. Receipt of LAIV (Live Attenuated Influenza Vaccine), also known as FluMist , within the prior 30 days, or any vaccine within the prior 5 days 3. Multivitamins, Vitamin C or E or herbal medications in the 4 days prior to the treatment visit 4. 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: 1. Temperature \> 37.8 degrees Celsius (C) 2. 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 3. Oxygen saturation of \< 93 percent * Inability or unwillingness of a participant to give written informed consent.
Where this trial is running
Chapel Hill, North Carolina
- University of North Carolina Chapel Hill — Chapel Hill, North Carolina, United States (Recruiting)
Study contacts
- Principal investigator: Lawrence Ostrowski, PhD — University of North Carolina at Chapel Hil
- Study coordinator: Corinne N Lawler, MR
- Email: corinne.lawler@unc.edu
- Phone: 919-962-9841
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.