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

Launched by UNIVERSITY OF NORTH CAROLINA, CHAPEL HILL · May 24, 2021

Keywords

ClinConnect Summary

This clinical trial is studying a condition called Primary Ciliary Dyskinesia (PCD), which affects how well the body clears mucus from the lungs and other parts of the body. Researchers want to see how different genetic mutations related to PCD affect the ability to clear mucus, comparing patients with these mutations to healthy individuals. They believe that some mutations may cause milder symptoms, allowing patients to clear mucus better than those with more severe mutations. The results of this study could help improve future treatment options for people with PCD.

To participate in the study, you need to have a confirmed diagnosis of PCD with specific genetic mutations and be between 4 and 32 years old. Healthy volunteers aged 18 and older can also join, but they must have good lung function and no history of lung disease. Participants will undergo tests to measure how well they can clear mucus, and they’ll be monitored throughout the study. It’s important to note that certain health conditions, recent infections, and medication use may exclude someone from participating. If you or a family member are interested, please reach out to the study team to learn more about eligibility and what to expect.

Gender

ALL

Eligibility 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.