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

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 130 mmHg or 80 or <40
• Oxygen saturation of < 93 percent
• Inability or unwillingness of a participant to give written informed consent.