Swiss Primary Ciliary Dyskinesia Registry

NCT03606200 | Recruiting

• 1 other identifier: CH-PCD (SRDR)
• Study Type: observational
• Target: 800
• Locations: 1 country
• Sites: 1

Brief Summary

The Swiss Primary Ciliary Dyskinesia (PCD) Registry is a national patient registry that collects information on diagnosis, symptoms, treatment and follow-up of patients with PCD in Switzerland and provides data for national and international monitoring and research.

Conditions

Primary Ciliary Dyskinesia; Kartagener Syndrome

Outcome Measures

Primary Outcomes (12)

• Height

  Height z-scores calculated based on available national and international references

  every 3 months up to 80 years

• BMI

  Body Mass Index (BMI) z-scores calculated based on available national and international references

  every 3 months up to 80 years

• Lung function measurements

  Spirometric indices, particularly Forced expiratory volume in 1 sec (FEV1) and Forced vital capacity (FVC) z-scores calculated based on Global Lung Function Initiative (GLI) reference values

  every 3 months up to 80 years

• Measurement of nasal nitric oxide using breath analyzer

  Results of nasal nitric oxide measurement, performed for diagnosis

  at study entry (in case patient is <5 years old at study entry, then the outcome will be assessed at age 5

• Cilia ultrastructure identified using electron microscopy analysis

  Results of electron microscopy analysis of cilia, performed for diagnosis

  at study entry

• Ciliary beat frequency and beat pattern using video microscopy analysis

  Results of video microscopy analysis of cilia, performed for diagnosis

  at study entry

• Microbiological culture of respiratory samples

  Results of microbiology cultures of respiratory samples (sputum, cough swabs, throat swabs, ear swabs, bronchoalveolar lavage) expressed in a qualitative (growth or no growth of pathogens) or semiquantitative way (the type of sample depends on the age of the patient and the clinic the sample was collected).

  every 3 months up to 80 years

• Antibiotic resistance of microbes isolated in microbiological cultures

  Information on antibiotic resistance of microbes isolated in microbiological cultures (see outcome 7) of respiratory samples, expressed either semiquantitatively or by the value of minimum inhibitory concentration.

  every 3 months up to 80 years

• Chest computed tomography

  Radiological findings from chest computed tomography

  every 3 months up to 80 years

• Sinus computed tomography

  Radiological findings from sinus computed tomography

  every 3 months up to 80 years

• Vital status

  Vital status of patient: has the patient died or is he/she still alive and in case of death what was the cause?

  every 3 months up to 80 years

• Clinical symptoms frequency

  Frequency of respiratory symptoms recorded with a patient or parent-reported questionnaire

  once a year up to 80 years

Eligibility Criteria

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

Study Population

Patients of all ages diagnosed with PCD, who are resident or treated in Switzerland.

You may qualify if:

• Patients diagnosed with primary ciliary dyskinesia
• Signed informed consent or assent

Sponsors & Collaborators

• University of Bern: lead

Study Sites (1)

University of Bern

Bern, 3012, Switzerland

RECRUITING

Related Publications (3)

• Goutaki M, Eich MO, Halbeisen FS, Barben J, Casaulta C, Clarenbach C, Hafen G, Latzin P, Regamey N, Lazor R, Tschanz S, Zanolari M, Maurer E, Kuehni CE; Swiss PCD Registry (CH-PCD) Working Group. The Swiss Primary Ciliary Dyskinesia registry: objectives, methods and first results. Swiss Med Wkly. 2019 Jan 13;149:w20004. doi: 10.57187/smw.2019.20004. eCollection 2019 Jan 1.

  PMID: 30691261 RESULT

• Goutaki M, Husler L, Lam YT, Koppe HM, Jung A, Lazor R, Muller L; Swiss PCD Research Group; Pedersen ESL, Kuehni CE. Respiratory symptoms of Swiss people with primary ciliary dyskinesia. ERJ Open Res. 2022 Apr 11;8(2):00673-2021. doi: 10.1183/23120541.00673-2021. eCollection 2022 Apr.

  PMID: 35415187 RESULT

• Lam YT, Pedersen ESL, Schreck LD, Husler L, Koppe H, Belle FN, Clarenbach C, Latzin P; Swiss PCD research group; Kuehni CE, Goutaki M. Physical activity, respiratory physiotherapy practices, and nutrition among people with primary ciliary dyskinesia in Switzerland - a cross-sectional survey. Swiss Med Wkly. 2022 Aug 18;152:w30221. doi: 10.4414/smw.2022.w30221. eCollection 2022 Aug 15.

  PMID: 36041191 RESULT

MeSH Terms

Conditions

Ciliary Motility Disorders; Kartagener Syndrome

Condition Hierarchy (Ancestors)

Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Ciliopathies; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Bronchiectasis; Bronchial Diseases; Respiratory System Abnormalities; Dextrocardia; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Situs Inversus

Study Officials

• Claudia E Kuehni, Prof

  University of Bern

  PRINCIPAL INVESTIGATOR

• Myrofora Goutaki, PD, MD-PhD

  University of Bern

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Claudia E Kuehni, Prof

CONTACT

0041 316313507; spcdr@hin.ch

Myrofora Goutaki, PD, MD-PhD

CONTACT

0041 316315973; spcdr@hin.ch

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Target Duration: 80 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 11, 2018
• First Posted: July 30, 2018
• Study Start: January 1, 2013
• Primary Completion (Estimated): December 1, 2080
• Study Completion (Estimated): December 1, 2080
• Last Updated: November 25, 2025

Record last verified: 2025-11

Locations

CH (1)