Primary Ciliary Dyskinesia in Adult Bronchiectasis

NCT07566611 | Not Yet Recruiting

• 1 other identifier: 29887
• Study Type: interventional
• Target: 60
• Locations: 0 countries
• Sites: N/A

Brief Summary

The purpose of this study is to help determine how often primary ciliary dyskinesia (PCD) is present but undiagnosed in adults with bronchiectasis.

Conditions

Idiopathic Bronchiectasis

Outcome Measures

Primary Outcomes (1)

• Percentage of participants with a screen positive result

  Percentage of participants with a screen positive result. This will be defined as abnormal nNO and/or abnormal HSVA and confirmatory genetic testing or TEM findings of classic pathogenic variants.

  From Baseline through study completion, approximately two years.

Study Arms (1)

Bronchiectasis

EXPERIMENTAL

patients with a known or new diagnosis of bronchiectasis

Procedure: Nasal Nitric Oxide Measurement; Procedure: Nasopharyngeal (Nasal) Samples

Interventions

Nasal Nitric Oxide Measurement PROCEDURE

Subjects will have their nasal nitric oxide measured using commercially available chemiluminescence analyzer in accordance with American Thoracic Society/European Respiratory Society guidelines

Bronchiectasis

Nasopharyngeal (Nasal) Samples PROCEDURE

Human nasal epithelial cells will be collected via nasal swab, nasal curettage or nasal brush from each nostril.

Bronchiectasis

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Adults (≥18) with CT-confirmed bronchiectasis

You may not qualify if:

• Pre-existing diagnosis of cystic fibrosis
• Pre-existing diagnosis of primary ciliary dyskinesia
• Inability to perform testing
• Refusal of consent

Sponsors & Collaborators

• Indiana University: lead

Related Publications (12)

• Chalmers JD, Aliberti S, Polverino E, Vendrell M, Crichton M, Loebinger M, Dimakou K, Clifton I, van der Eerden M, Rohde G, Murris-Espin M, Masefield S, Gerada E, Shteinberg M, Ringshausen F, Haworth C, Boersma W, Rademacher J, Hill AT, Aksamit T, O'Donnell A, Morgan L, Milenkovic B, Tramma L, Neves J, Menendez R, Paggiaro P, Botnaru V, Skrgat S, Wilson R, Goeminne P, De Soyza A, Welte T, Torres A, Elborn JS, Blasi F. The EMBARC European Bronchiectasis Registry: protocol for an international observational study. ERJ Open Res. 2016 Jan 20;2(1):00081-2015. doi: 10.1183/23120541.00081-2015. eCollection 2016 Jan.

  PMID: 27730179 BACKGROUND

• Ringshausen FC, de Roux A, Diel R, Hohmann D, Welte T, Rademacher J. Bronchiectasis in Germany: a population-based estimation of disease prevalence. Eur Respir J. 2015 Dec;46(6):1805-7. doi: 10.1183/13993003.00954-2015. Epub 2015 Aug 20. No abstract available.

  PMID: 26293498 BACKGROUND

• Lucas JS, Barbato A, Collins SA, Goutaki M, Behan L, Caudri D, Dell S, Eber E, Escudier E, Hirst RA, Hogg C, Jorissen M, Latzin P, Legendre M, Leigh MW, Midulla F, Nielsen KG, Omran H, Papon JF, Pohunek P, Redfern B, Rigau D, Rindlisbacher B, Santamaria F, Shoemark A, Snijders D, Tonia T, Titieni A, Walker WT, Werner C, Bush A, Kuehni CE. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. Eur Respir J. 2017 Jan 4;49(1):1601090. doi: 10.1183/13993003.01090-2016. Print 2017 Jan.

  PMID: 27836958 BACKGROUND

• Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR, Zariwala MA. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med. 2009 Jul;11(7):473-87. doi: 10.1097/GIM.0b013e3181a53562.

  PMID: 19606528 BACKGROUND

• Raidt J, Krenz H, Tebbe J, Grosse-Onnebrink J, Olbrich H, Loges NT, Biebach L, Schmalstieg C, Kessler C, Wallmeier J, Dworniczak B, Pennekamp P, Dugas M, Werner C, Omran H. Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal Ultrastructure. Ann Am Thorac Soc. 2022 Aug;19(8):1275-1284. doi: 10.1513/AnnalsATS.202106-728OC.

  PMID: 35202559 BACKGROUND

• Hannah WB, Seifert BA, Truty R, Zariwala MA, Ameel K, Zhao Y, Nykamp K, Gaston B. The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis. Lancet Respir Med. 2022 May;10(5):459-468. doi: 10.1016/S2213-2600(21)00453-7. Epub 2022 Jan 17.

  PMID: 35051411 BACKGROUND

• Barber AT, Davis SD, Boutros H, Zariwala M, Knowles MR, Leigh MW. Use caution interpreting nasal nitric oxide: Overlap in primary ciliary dyskinesia and primary immunodeficiency. Pediatr Pulmonol. 2021 Dec;56(12):4045-4047. doi: 10.1002/ppul.25636. Epub 2021 Sep 2. No abstract available.

  PMID: 34473915 BACKGROUND

• Popatia R, Haver K, Casey A. Primary Ciliary Dyskinesia: An Update on New Diagnostic Modalities and Review of the Literature. Pediatr Allergy Immunol Pulmonol. 2014 Jun 1;27(2):51-59. doi: 10.1089/ped.2013.0314.

  PMID: 24963453 BACKGROUND

• Shoemark A, Goutaki M, Kinghorn B, Ardura-Garcia C, Baz-Redon N, Chilvers M, Davis SD, De Brandt J, Dell S, Dhar R, Dixon L, Ferkol T, Hogg C, Legendre M, Leigh M, Lucas JS, Manion M, Rumman N, Toews I, Labonte V, Wee WB, Kouis P, Horani A. European Respiratory Society and American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia. Eur Respir J. 2025 Dec 18;66(6):2500745. doi: 10.1183/13993003.00745-2025. Print 2025 Dec.

  PMID: 41005984 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

• Rubbo B, Shoemark A, Jackson CL, Hirst R, Thompson J, Hayes J, Frost E, Copeland F, Hogg C, O'Callaghan C, Reading I, Lucas JS; National PCD Service, UK. Accuracy of High-Speed Video Analysis to Diagnose Primary Ciliary Dyskinesia. Chest. 2019 May;155(5):1008-1017. doi: 10.1016/j.chest.2019.01.036. Epub 2019 Feb 28.

  PMID: 30826306 BACKGROUND

• Shoemark A, Griffin H, Wheway G, Hogg C, Lucas JS; Genomics England Research Consortium; Camps C, Taylor J, Carroll M, Loebinger MR, Chalmers JD, Morris-Rosendahl D, Mitchison HM, De Soyza A; Genomics England Research Consortium:; Brown D, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Caulfield MJ, Chan GC, Fowler T, Giess A, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Leigh SEA, Leong IUS, Lopez FJ, Maleady-Crowe F, McEntagart M, Minneci F, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Perez-Gil D, Pereira MB, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares AL, Thomas ERA, Thompson SR, Tucci A, Welland MJ, Williams E, Witkowska K, Wood SM. Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis. Eur Respir J. 2022 Nov 17;60(5):2200176. doi: 10.1183/13993003.00176-2022. Print 2022 Nov.

  PMID: 35728977 BACKGROUND

Central Study Contacts

Kenzie Mahan

CONTACT

3172748899; krmahan@iu.edu

Lisa Bendy

CONTACT

(317) 278-7152; lbendy@iu.edu

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Research Professor

Study Record Dates

• First Submitted: April 20, 2026
• First Posted: May 5, 2026
• Study Start: May 1, 2026
• Primary Completion (Estimated): January 31, 2028
• Study Completion (Estimated): January 31, 2028
• Last Updated: May 5, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share