COMPLETED

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

Conditions

Primary Ciliary Dyskinesia Mucociliary clearance Radial Spoke Head Component 1 (RSPH1)Dynein Axonemal Heavy Chain 5 (DNAH5)albuterol short acting beta-adrenergic (SABA)SABA

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

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.

Official Title

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

Quick Facts

Study Start:2021-06-10

Study Completion:2024-07-22

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:COMPLETED

Study ID

NCT04901715

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.

Ages Eligible for Study:12 Years to 90 Years

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:Yes

Standard Ages:CHILD, ADULT, OLDER_ADULT

Inclusion Criteria	Exclusion Criteria
Age 18 years or older Willing and able to provide informed consent Able to understand and follow study procedures Stable medical condition	* 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.

Inclusion Criteria

Exclusion Criteria

Age 18 years or older
Willing and able to provide informed consent
Able to understand and follow study procedures
Stable medical condition

* 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.

Contacts and Locations

Principal Investigator

Lawrence Ostrowski, PhD

PRINCIPAL_INVESTIGATOR

University of North Carolina at Chapel Hil

Study Locations (Sites)

University of North Carolina Chapel Hill

Chapel Hill, North Carolina, 27514

United States

Collaborators and Investigators

Sponsor: University of North Carolina, Chapel Hill

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

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2021-06-10

Study Completion Date2024-07-22

Study Record Updates

Study Start Date2021-06-10

Study Completion Date2024-07-22

Terms related to this study

Keywords Provided by Researchers

Mucociliary clearance
Radial Spoke Head Component 1 (RSPH1)
Dynein Axonemal Heavy Chain 5 (DNAH5)
albuterol
short acting beta-adrenergic (SABA)
SABA

Additional Relevant MeSH Terms

Primary Ciliary Dyskinesia