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Original article

Vol. 149 No. 0102 (2019)

The Swiss Primary Ciliary Dyskinesia registry: objectives, methods and first results

DOI
https://doi.org/10.57187/smw.2019.20004
Cite this as:
Swiss Med Wkly. 2019;149:w20004
Published
13.01.2019

Abstract

Primary ciliary dyskinesia (PCD) is a rare, hereditary, multiorgan disease caused by defects in the structure and function of motile cilia. It results in a wide range of clinical manifestations, most commonly in the upper and lower airways. Central data collection in national and international registries is essential to studying the epidemiology of rare diseases and filling in gaps in knowledge of diseases such as PCD. For this reason, the Swiss Primary Ciliary Dyskinesia Registry (CH-PCD) was founded in 2013 as a collaborative project between epidemiologists and adult and paediatric pulmonologists. We describe the objectives and methodology of the CH-PCD, present initial results, and give an overview of current and ongoing projects.

The registry records patients of any age, suffering from PCD, who are treated and resident in Switzerland. It collects information from patients identified through physicians, diagnostic facilities and patient organisations. The registry dataset contains data on diagnostic evaluations, lung function, microbiology and imaging, symptoms, treatments and hospitalisations.

By May 2018, CH-PCD has contacted 566 physicians of different specialties and identified 134 patients with PCD. At present, this number represents an overall 1 in 63,000 prevalence of people diagnosed with PCD in Switzerland. Prevalence differs by age and region; it is highest in children and adults younger than 30 years, and in Espace Mittelland. The median age of patients in the registry is 25 years (range 5–73), and 41 patients have a definite PCD diagnosis based on recent international guidelines. Data from CH-PCD are contributed to international collaborative studies and the registry facilitates patient identification for nested studies.

CH-PCD has proven to be a valuable research tool that already has highlighted weaknesses in PCD clinical practice in Switzerland.

Trial registration number

NCT03606200

References

  1. Lucas JS, Walker WT, Kuehni CE, Lazor R. Primary Ciliary Dyskinesia. In: Courdier J-F, editor Orphan Lung diseases European Respiratory Monograph 2011:201-17. DOI: https://doi.org/10.1183/1025448x.10008310
  2. Behan LB, Carroll M, Evans HJ, Goutaki M, Harris A, Hogg C, et al. PICADAR- a screening tool for primary ciliary dyskinesia. Eur Respir J. 2016;47(4):1103–12 DOI: https://doi.org/10.1183/13993003.01551-2015
  3. Davis SD, Ferkol TW, Rosenfeld M, Lee HS, Dell SD, Sagel SD, et al. Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype. Am J Respir Crit Care Med. 2015;191(3):316–24. doi:.https://doi.org/10.1164/rccm.201409-1672OC DOI: https://doi.org/10.1164/rccm.201409-1672OC
  4. Frija-Masson J, Bassinet L, Honoré I, Dufeu N, Housset B, Coste A, et al. Clinical characteristics, functional respiratory decline and follow-up in adult patients with primary ciliary dyskinesia. Thorax. 2017;72(2):154–60. doi:.https://doi.org/10.1136/thoraxjnl-2015-207891 DOI: https://doi.org/10.1136/thoraxjnl-2015-207891
  5. Shah A, Shoemark A, MacNeill SJ, Bhaludin B, Rogers A, Bilton D, et al. A longitudinal study characterising a large adult primary ciliary dyskinesia population. Eur Respir J. 2016;48(2):441–50. doi:.https://doi.org/10.1183/13993003.00209-2016 DOI: https://doi.org/10.1183/13993003.00209-2016
  6. Shapiro AJ, Davis SD, Ferkol T, Dell SD, Rosenfeld M, Olivier KN, et al.; Genetic Disorders of Mucociliary Clearance Consortium. Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. Chest. 2014;146(5):1176–86. doi:.https://doi.org/10.1378/chest.13-1704 DOI: https://doi.org/10.1378/chest.13-1704
  7. Goutaki M, Meier AB, Halbeisen FS, Lucas JS, Dell SD, Maurer E, et al. Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis. Eur Respir J. 2016;48(4):1081–95. doi:.https://doi.org/10.1183/13993003.00736-2016 DOI: https://doi.org/10.1183/13993003.00736-2016
  8. Höben IM, Hjeij R, Olbrich H, Dougherty GW, Nöthe-Menchen T, Aprea I, et al. Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms. Am J Hum Genet. 2018;102(5):973–84. doi:.https://doi.org/10.1016/j.ajhg.2018.03.025 DOI: https://doi.org/10.1016/j.ajhg.2018.03.025
  9. Shapiro AJ, Davis SD, Polineni D, Manion M, Rosenfeld M, Dell SD, et al.; 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;197(12):e24–39. doi:.https://doi.org/10.1164/rccm.201805-0819ST DOI: https://doi.org/10.1164/rccm.201805-0819ST
  10. Lucas JS, Barbato A, Collins SA, Goutaki M, Behan L, Caudri D, et al. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. Eur Respir J. 2017;49(1):1601090. doi:.https://doi.org/10.1183/13993003.01090-2016 DOI: https://doi.org/10.1183/13993003.01090-2016
  11. Strippoli MP, Frischer T, Barbato A, Snijders D, Maurer E, Lucas JS, et al.; ERS Task Force onPrimary Ciliary Dyskinesia in Children. Management of primary ciliary dyskinesia in European children: recommendations and clinical practice. Eur Respir J. 2012;39(6):1482–91. doi:.https://doi.org/10.1183/09031936.00073911 DOI: https://doi.org/10.1183/09031936.00073911
  12. Werner C, Lablans M, Ataian M, Raidt J, Wallmeier J, Große-Onnebrink J, et al. An international registry for primary ciliary dyskinesia. Eur Respir J. 2016;47(3):849–59. doi:.https://doi.org/10.1183/13993003.00776-2015 DOI: https://doi.org/10.1183/13993003.00776-2015
  13. Goutaki M, Maurer E, Halbeisen FS, Amirav I, Barbato A, Behan L, et al.; PCD Italian Consortium; Swiss PCD Group; French Reference Centre for Rare Lung Diseases; Genetic Disorders of Mucociliary Clearance Consortium. The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results. Eur Respir J. 2017;49(1):1601181. doi:.https://doi.org/10.1183/13993003.01181-2016 DOI: https://doi.org/10.1183/13993003.01181-2016
  14. Barbato A, Frischer T, Kuehni CE, Snijders D, Azevedo I, Baktai G, et al. Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. Eur Respir J. 2009;34(6):1264–76. doi:.https://doi.org/10.1183/09031936.00176608 DOI: https://doi.org/10.1183/09031936.00176608
  15. Harris PA, Taylor R, Thielke R, Payne J, Gonzalez N, Conde JG. Research electronic data capture (REDCap)--a metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inform. 2009;42(2):377–81. doi:.https://doi.org/10.1016/j.jbi.2008.08.010 DOI: https://doi.org/10.1016/j.jbi.2008.08.010
  16. Halbeisen F, Hogg C, Alanin MC, Bukowy-Bieryllo Z, Dasi F, Duncan J, et al. Proceedings of the 2nd BEAT-PCD conference and 3rd PCD training school: part 1. BMC Proc. 2018;12(S2, Suppl 2):1. doi:.https://doi.org/10.1186/s12919-018-0098-9 DOI: https://doi.org/10.1186/s12919-018-0098-9
  17. Rubbo B, Behan L, Dehlink E, Goutaki M, Hogg C, Kouis P, et al.; BEAT-PCD. Proceedings of the COST action BM1407 inaugural conference BEAT-PCD: translational research in primary ciliary dyskinesia - bench, bedside, and population perspectives. BMC Proc. 2016;10(S9, Suppl 9):66. doi:.https://doi.org/10.1186/s12919-016-0067-0 DOI: https://doi.org/10.1186/s12919-016-0067-0
  18. Kuehni CE, Lucas JS. Diagnosis of primary ciliary dyskinesia: summary of the ERS Task Force report. Breathe (Sheff). 2017;13(3):166–78. doi:.https://doi.org/10.1183/20734735.008517 DOI: https://doi.org/10.1183/20734735.008517
  19. Goutaki M, Halbeisen FS, Spycher BD, Maurer E, Belle F, Amirav I, et al.; PCD Israeli Consortium; Swiss PCD Group; French Reference Centre for Rare Lung Diseases. Growth and nutritional status, and their association with lung function: a study from the international Primary Ciliary Dyskinesia Cohort. Eur Respir J. 2017;50(6):1701659. doi:.https://doi.org/10.1183/13993003.01659-2017
  20. Halbeisen FS, Goutaki M, Spycher BD, Amirav I, Behan L, Boon M, et al. Lung function in patients with primary ciliary dyskinesia: an iPCD Cohort study. Eur Respir J. 2018;52(2):1801040. doi:.https://doi.org/10.1183/13993003.01040-2018
  21. Nyilas S, Schlegtendal A, Singer F, Goutaki M, Kuehni CE, Casaulta C, et al. Alternative inert gas washout outcomes in patients with primary ciliary dyskinesia. Eur Respir J. 2017;49(1):1600466. doi:.https://doi.org/10.1183/13993003.00466-2016 DOI: https://doi.org/10.1183/13993003.00466-2016
  22. Halbeisen F, Goutaki M, Maurer E, Boon M, Casaulta C, Crowley S, et al. Evolution of Primary Ciliary Dyskinesia (PCD) diagnostic testing in Europe. Eur Respir J. 2017;50(suppl_61):PA1846. doi:10.1183/1393003.congress-2017.PA1846 DOI: https://doi.org/10.1183/1393003.congress-2017.PA1846
  23. Behan L, Leigh MW, Dell SD, Dunn Galvin A, Quittner AL, Lucas JS. Validation of a health-related quality of life instrument for primary ciliary dyskinesia (QOL-PCD). Thorax. 2017;72(9):832–9. doi:.https://doi.org/10.1136/thoraxjnl-2016-209356 DOI: https://doi.org/10.1136/thoraxjnl-2016-209356
  24. Dell SD, Leigh MW, Lucas JS, Ferkol TW, Knowles MR, Alpern A, et al. Primary Ciliary Dyskinesia: First Health-related Quality-of-Life Measures for Pediatric Patients. Ann Am Thorac Soc. 2016;13(10):1726–35. doi:.https://doi.org/10.1513/AnnalsATS.201603-198OC
  25. Lucas JS, Behan L, Dunn Galvin A, Alpern A, Morris AM, Carroll MP, et al. A quality-of-life measure for adults with primary ciliary dyskinesia: QOL-PCD. Eur Respir J. 2015;46(2):375–83. doi:.https://doi.org/10.1183/09031936.00216214 DOI: https://doi.org/10.1183/09031936.00216214
  26. Kobbernagel HE, Buchvald FF, Haarman EG, Casaulta C, Collins SA, Hogg C, et al. Study protocol, rationale and recruitment in a European multi-centre randomized controlled trial to determine the efficacy and safety of azithromycin maintenance therapy for 6 months in primary ciliary dyskinesia. BMC Pulm Med. 2016;16(1):104. doi:.https://doi.org/10.1186/s12890-016-0261-x DOI: https://doi.org/10.1186/s12890-016-0261-x
  27. Vanaken GJ, Bassinet L, Boon M, Mani R, Honoré I, Papon JF, et al. Infertility in an adult cohort with primary ciliary dyskinesia: phenotype-gene association. Eur Respir J. 2017;50(5):1700314. doi:.https://doi.org/10.1183/13993003.00314-2017 DOI: https://doi.org/10.1183/13993003.00314-2017
  28. Lucas JS, Chetcuti P, Copeland F, Hogg C, Kenny T, Moya E, et al. Overcoming challenges in the management of primary ciliary dyskinesia: the UK model. Paediatr Respir Rev. 2014;15(2):142–5. DOI: https://doi.org/10.1016/j.prrv.2013.04.007
  29. Kuehni CE, Frischer T, Strippoli MP, Maurer E, Bush A, Nielsen KG, et al.; ERS Task Force on Primary Ciliary Dyskinesia in Children. Factors influencing age at diagnosis of primary ciliary dyskinesia in European children. Eur Respir J. 2010;36(6):1248–58. doi:.https://doi.org/10.1183/09031936.00001010 DOI: https://doi.org/10.1183/09031936.00001010
  30. Kuehni CE, Goutaki M, Carroll M, Lucas JS. Primary ciliary dyskinesia: the patients grow up. Eur Respir J. 2016;48(2):297–300. doi:.https://doi.org/10.1183/13993003.01098-2016 DOI: https://doi.org/10.1183/13993003.01098-2016
  31. Halbeisen F, Goutaki M, Maurer E, Boon M, Casaulta C, Clement A, et al. Lung function in patients with primary ciliary dyskinesia (PCD): A multinational study. Eur Respir J. 2015;46(suppl_59):OA3480. doi:10.1183/13993003.congress-2015.OA3480 DOI: https://doi.org/10.1183/13993003.congress-2015.OA3480
  32. Braegger C, Jenni O, Konrad D, Molinari L. Neue Wachstumskurven für die Schweiz. Paediatrica. 2011;22:9–11.
  33. Quanjer PH, Stanojevic S, Cole TJ, Baur X, Hall GL, Culver BH, et al.; ERS Global Lung Function Initiative. Multi-ethnic reference values for spirometry for the 3-95-yr age range: the global lung function 2012 equations. Eur Respir J. 2012;40(6):1324–43. doi:.https://doi.org/10.1183/09031936.00080312
  34. a Goutaki M, Halbeisen FS, Spycher BD, Maurer E, Belle F, Amirav I, et al.; PCD Israeli Consortium; Swiss PCD Group; French Reference Centre for Rare Lung Diseases. Growth and nutritional status, and their association with lung function: a study from the international Primary Ciliary Dyskinesia Cohort. Eur Respir J. 2017;50(6):1701659. doi:.https://doi.org/10.1183/13993003.01659-2017 DOI: https://doi.org/10.1183/13993003.01659-2017
  35. a Halbeisen FS, Goutaki M, Spycher BD, Amirav I, Behan L, Boon M, et al. Lung function in patients with primary ciliary dyskinesia: an iPCD Cohort study. Eur Respir J. 2018;52(2):1801040. doi:.https://doi.org/10.1183/13993003.01040-2018 DOI: https://doi.org/10.1183/13993003.01040-2018
  36. a Braegger C, Jenni O, Konrad D, Molinari L. Neue Wachstumskurven für die Schweiz. Paediatrica. 2011;22:9–11.
  37. a Quanjer PH, Stanojevic S, Cole TJ, Baur X, Hall GL, Culver BH, et al.; ERS Global Lung Function Initiative. Multi-ethnic reference values for spirometry for the 3-95-yr age range: the global lung function 2012 equations. Eur Respir J. 2012;40(6):1324–43. doi:.https://doi.org/10.1183/09031936.00080312 DOI: https://doi.org/10.1183/09031936.00080312

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