International Primary Ciliary Dyskinesia (PCD) Registry

NCT02419365 | Recruiting

• 1 other identifier: PCD Registry
• Study Type: observational
• Target: 2,000
• Locations: 1 country
• Sites: 2

Brief Summary

The purpose of the international prospective PCD Patient Registry is to systematically measure, survey and compare different aspects of PCD manifestation, course and treatment, to provide data for epidemiological research and to identify special patient groups suitable for multi-center trials. This International PCD Registry is also part of the European Reference Network ERN-LUNG. We follow the recommendations of the EU Expert Committee on Rare Diseases (EUCERD), which recommend an international interoperability of registries and databases to pool and exchange knowledge and data on rare diseases.

Conditions

Primary Ciliary Dyskinesia (PCD)

Keywords

Primary Ciliary Dyskinesia (PCD)

Outcome Measures

Primary Outcomes (1)

• descriptive analysis

  Descriptive statistical methods, i.e. frequency tables, location and scale statistics and graphical presentations will be applied to analyse: age at diagnosis, family history (consanguinity), associated malformations/diseases, laterality defects, clinical manifestations (otitis media, rhinosinusitis, pneumonia, bronchiectasis, neonatal respiratory distress syndrome), microbiological results, diagnostic findings (video microscopy, electron microscopy, nasal NO, immunofluorescence analysis), lung function, radiological findings and therapeutic measures (inhalation therapy, antibiotics, oxygen, ventilation, upper airways surgery, lung surgery). Furthermore, quality of life will be assessed using QOL-PCD, a disease specific questionnaire.

  10 years

Study Arms (1)

PCD

Individuals with Primary Ciliary Dyskinesia will be assessed in a pure observational design without intervention

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

Individuals with a diagnosis of Primary Ciliary Dyskinesia.

You may qualify if:

• Patients of any age who fulfil the diagnostic criteria below are eligible:
• Clinical presentation consistent with PCD and consistent findings specific for PCD in at least two of the following methods:
• high frequency video microscopic finding transmission electron microscopy finding immunofluorescence finding low nasal NO concentration/production demonstration of biallelic disease-causing mutations by genotyping
• Given the complexity of diagnosing PCD, it is anticipated that not all patients will meet these definite diagnostic criteria. Therefore, individuals with typical clinical symptoms and only one abnormal diagnostic test are also eligible to enter the registry. These cases usually are considered to have a possible PCD diagnosis with exceptions made on an individual basis.

Sponsors & Collaborators

• University Hospital Muenster: lead
• European Commission: collaborator
• University of Nicosia: collaborator
• Rigshospitalet, Denmark: collaborator
• KU Leuven: collaborator
• Hannover Medical School: collaborator
• Attikon Hospital: collaborator
• Amsterdam UMC, location VUmc: collaborator
• University of Bern: collaborator
• University of Southampton: collaborator
• Royal Brompton & Harefield NHS Foundation Trust: collaborator
• University of North Carolina: collaborator
• Ruhr University of Bochum: collaborator
• Federico II University: collaborator
• Hospital Vall d'Hebron: collaborator
• Medical University of Vienna: collaborator
• Marmara University: collaborator
• University Hospital, Martin: collaborator
• University of Pisa: collaborator
• Assistance Publique - Hôpitaux de Paris: collaborator
• University of Alberta: collaborator
• University of Giessen: collaborator

Study Sites (2)

University Hospital Münster

Münster, North Rhine-Westphalia, 48149, Germany

RECRUITING

University Hospital Muenster, Department of General Pediatrics

Münster, 48149, Germany

RECRUITING

Related Publications (1)

• Werner C, Lablans M, Ataian M, Raidt J, Wallmeier J, Grosse-Onnebrink J, Kuehni CE, Haarman EG, Leigh MW, Quittner AL, Lucas JS, Hogg C, Witt M, Priftis KN, Yiallouros P, Nielsen KG, Santamaria F, Uckert F, Omran H. An international registry for primary ciliary dyskinesia. Eur Respir J. 2016 Mar;47(3):849-59. doi: 10.1183/13993003.00776-2015. Epub 2015 Dec 8.

  PMID: 26659107 DERIVED

Related Links

• ERN-LUNG is a patient-centric network of European healthcare providers and patient organisations, committed Europe-wide and globally to reducing morbidity and mortality from rare lung diseases in people of all ages
• European Platform on Rare Disease Registration

MeSH Terms

Conditions

Ciliary Motility Disorders

Condition Hierarchy (Ancestors)

Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Ciliopathies; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Central Study Contacts

Petra Pennekamp, PhD

CONTACT

+4925183; petra.pennekamp@ukmuenster.de

Simone Helms

CONTACT

+4925183; Simone.Helms@ukmuenster.de

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 20 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Dr

Study Record Dates

• First Submitted: February 3, 2014
• First Posted: April 17, 2015
• Study Start: January 1, 2014
• Primary Completion (Estimated): December 1, 2030
• Study Completion (Estimated): December 1, 2030
• Last Updated: November 28, 2022

Record last verified: 2022-11

Locations

DE (2)