Gene clues may predict lung function in rare disease
NCT ID NCT04901715
First seen Jun 26, 2026 · Last updated Jun 26, 2026
Summary
This study looked at how well people with Primary Ciliary Dyskinesia (PCD) clear mucus from their lungs, based on which gene mutation they have. Researchers measured lung clearance in 27 participants, including healthy volunteers and PCD patients with different genetic mutations. The goal was to see if certain gene mutations lead to milder disease, which could help doctors tailor future treatments.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- Active substance
- Albuterol
- What this could lead to
- If successful, this study could help doctors predict which patients with Primary Ciliary Dyskinesia will have milder or more severe disease, guiding personalized treatment.
- What could go wrong
- This is a small, early-phase study with only 27 participants, so results may not apply to everyone. It is designed to gather knowledge, not to test a new treatment.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Phase
-
Early phase 1
The earliest testing in people: a first look at safety, in a very small group.
- Participants
-
27 people
The number who actually took part.
- Started
-
Jun 2021
- Finished
-
Jul 2024
- Lead sponsor
-
Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
-
12 to 90 years
- Sex
-
Anyone
- Healthy volunteers
-
Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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: 1. Use of beta blocking medications 2. Receipt of Live Attenuated Influenza Vaccine (LAIV), 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.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for Primary ciliary dyskinesia are added.
Genom att skicka in godkänner du våra Användarvillkor
Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
-
University of North Carolina Chapel Hill
Chapel Hill, North Carolina, 27514, United States
More trials for these conditions
Other studies related to the condition(s) this trial covers.
- Could exercise be a new way to clear lungs in PCD?
- Can better testing unlock the secrets of a rare lung disease?
- Tiny hairs in fallopian tubes may hold key to ectopic pregnancy
- Could a simple saltwater mist make breathing easier for lung patients?
- Rare lung disease study aims to uncover key health markers
- 300-Patient study aims to unlock secrets of rare lung disease