RECRUITING

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

Description

The purpose of this study is to measure mucociliary clearance (MCC) in groups of subjects with the disease Primary Ciliary Dyskinesia (PCD) caused by mutations in different genes, and compare to healthy subjects. Some of these genes are associated with a milder clinical phenotype. This study seeks to determine if the milder phenotype is a result of mutations in a set of specific genes. The hypothesis is that subjects with PCD caused by mutations in the milder group will maintain a low, but significant rate of mucociliary clearance, while patients with mutations in genes in the more severe group will have a complete absence of mucociliary clearance. These studies will help inform future treatment strategies.

Conditions

Primary Ciliary Dyskinesia
Talk to us

Related Conditions:

Primary Ciliary Dyskinesia

Study Overview

On this page

Study Details

Study overview

The purpose of this study is to measure mucociliary clearance (MCC) in groups of subjects with the disease Primary Ciliary Dyskinesia (PCD) caused by mutations in different genes, and compare to healthy subjects. Some of these genes are associated with a milder clinical phenotype. This study seeks to determine if the milder phenotype is a result of mutations in a set of specific genes. The hypothesis is that subjects with PCD caused by mutations in the milder group will maintain a low, but significant rate of mucociliary clearance, while patients with mutations in genes in the more severe group will have a complete absence of mucociliary clearance. These studies will help inform future treatment strategies.

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

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

Condition
Primary Ciliary Dyskinesia
Intervention / Treatment

-

Contacts and Locations

Chapel Hill

University of North Carolina Chapel Hill, Chapel Hill, North Carolina, United States, 27514

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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.

Ages Eligible for Study

12 Years to 90 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

University of North Carolina, Chapel Hill,

Lawrence Ostrowski, PhD, PRINCIPAL_INVESTIGATOR, University of North Carolina at Chapel Hil

Study Record Dates

2025-04-30