Use of Nasal Nitric Oxide Testing in Improving Primary Ciliary Dyskinesia Clinical Care

NCT05287022 | Recruiting

• 1 other identifier: 260432
• Study Type: observational
• Target: 150
• Locations: 1 country
• Sites: 1

Brief Summary

this study is aiming at learning more about primary ciliary dyskinesia (PCD) and tests that are used to diagnose this condition. One purpose of this study is to measure the level of nitric oxide in the nasal passages and examine how often the results correlate with other tests currently done to make the diagnosis.

Conditions

Primary Ciliary Dyskinesia

Keywords

nNO; Diagnosis; PCD

Outcome Measures

Primary Outcomes (1)

• Measuring nasal nitric oxide in comparison to ciliary biopsy and genetic testing for the diagnosis of PCD

  Individuals with PCD have characteristically low values of nNO; values below an established cut-off of 77nL/min are strongly associated with PCD in compatible clinical settings. These values are not well established for individuals who are in 2-5 years of age. nNO measurements (in nL/min) in 2-5 years of age will be compared to the diagnosis of PCD and assessed to establish diagnostic cut-offs.

  throughout the study, an average of 3 years

Secondary Outcomes (1)

• Comparing tidal breathing to resistor method

  throughout the study, an average of 3 years

Eligibility Criteria

• Age: 2 Years - 99 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Participants will include individuals who are diagnosed with PCD or undergoing work-up for primary ciliary dyskinesia based on their clinical symptoms as determined by the primary pulmonologist or other specialist

You may qualify if:

• Individuals who are diagnosed with Primary Ciliary Dyskinesia OR
• Individuals with abnormal PCD diagnostics (abnormal ciliary biopsy or PCD genetics) OR
• Individuals with unexplained bronchiectasis OR
• Individuals undergoing PCD diagnostic testing (ciliary biopsy, PCD genetic testing) or concern based on clinical symptoms (at least two of the following):
• Neonatal respiratory distress
• Organ laterality defects
• Year-round cough starting in first year of life or bronchiectasis on chest CT
• Year-round nasal congestion starting in first year of life or pansinusitis
• Multiple ear infections in the first two years of life with sequelae (e.g. ear tubes, chronic effusion, abnormal audiological exam)
• History of recurrent pneumonias (at least 2 in one year or more than 3 at any time)
• Ability to provide consent for participation in study by the participants or guardian
• Ability to perform the test
• Age \>= 2 years of age

You may not qualify if:

• Individuals who are unable to understand the requirements of the study.
• Individuals (or guardians) who are unwilling to provide consent.
• Individuals who are unable to complete the testing
• Recent history of sinus surgery (within four weeks) or bloody nose (within one week) of testing (they can be included at a later date)
• Patients who are currently being treated (within one week) with antibiotics for sinusitis or respiratory symptoms (they can be included at a later date)
• Age \<2 years of age

Sponsors & Collaborators

• Arkansas Children's Hospital Research Institute: lead

Study Sites (1)

Arkansas Children's Hospital

Little Rock, Arkansas, 72202, United States

RECRUITING

Related Publications (4)

• Shapiro AJ, Davis SD, Polineni D, Manion M, Rosenfeld M, Dell SD, Chilvers MA, Ferkol TW, Zariwala MA, Sagel SD, Josephson M, Morgan L, Yilmaz O, Olivier KN, Milla C, Pittman JE, Daniels MLA, Jones MH, Janahi IA, Ware SM, Daniel SJ, Cooper ML, Nogee LM, Anton B, Eastvold T, Ehrne L, Guadagno E, Knowles MR, Leigh MW, Lavergne V; American Thoracic Society Assembly on Pediatrics. Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline. Am J Respir Crit Care Med. 2018 Jun 15;197(12):e24-e39. doi: 10.1164/rccm.201805-0819ST.

  PMID: 29905515 BACKGROUND

• Shapiro AJ, Zariwala MA, Ferkol T, Davis SD, Sagel SD, Dell SD, Rosenfeld M, Olivier KN, Milla C, Daniel SJ, Kimple AJ, Manion M, Knowles MR, Leigh MW; Genetic Disorders of Mucociliary Clearance Consortium. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. Pediatr Pulmonol. 2016 Feb;51(2):115-32. doi: 10.1002/ppul.23304. Epub 2015 Sep 29.

  PMID: 26418604 BACKGROUND

• Shapiro AJ, Dell SD, Gaston B, O'Connor M, Marozkina N, Manion M, Hazucha MJ, Leigh MW. Nasal Nitric Oxide Measurement in Primary Ciliary Dyskinesia. A Technical Paper on Standardized Testing Protocols. Ann Am Thorac Soc. 2020 Feb;17(2):e1-e12. doi: 10.1513/AnnalsATS.201904-347OT.

  PMID: 31770003 BACKGROUND

• Collins SA, Behan L, Harris A, Gove K, Lucas JS. The dangers of widespread nitric oxide screening for primary ciliary dyskinesia. Thorax. 2016 Jun;71(6):560-1. doi: 10.1136/thoraxjnl-2015-208056. Epub 2016 Feb 19.

  PMID: 26896442 BACKGROUND

MeSH Terms

Conditions

Ciliary Motility Disorders; Disease

Condition Hierarchy (Ancestors)

Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Ciliopathies; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Zena Ghazala, MD

CONTACT

5013641006; zbghazala@uams.edu

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 9, 2021
• First Posted: March 18, 2022
• Study Start: June 14, 2021
• Primary Completion (Estimated): June 1, 2030
• Study Completion (Estimated): June 1, 2030
• Last Updated: January 30, 2025

Record last verified: 2025-01

Locations

US (1)