Working... Menu

International Prospective Patient Registry for Primary Ciliary Dyskinesia (PCD)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT02419365
Recruitment Status : Recruiting
First Posted : April 17, 2015
Last Update Posted : April 17, 2015
European Commission
Information provided by (Responsible Party):
Claudius Werner, University Hospital Muenster

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.

Condition or disease
Primary Ciliary Dyskinesia (PCD)

Detailed Description:
Main objective is to establish an international prospective registry for Primary Ciliary Dyskinesia (PCD) for systematic data collection on incidence, clinical presentation, treatment and course of the disease.This will allow to monitor trends in diagnosis, management and outcomes and will show how efforts to improve diagnosis and treatments will change clinical practice and long-term outcomes.

Layout table for study information
Study Type : Observational [Patient Registry]
Estimated Enrollment : 800 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 20 Years
Official Title: Prospective Primary Ciliary Dyskinesia (PCD) Registry for Systematic Data Collection on Incidence, Clinical Presentation, Treatment and Course of the Disease
Study Start Date : January 2014
Estimated Primary Completion Date : December 2030
Estimated Study Completion Date : December 2030

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

Primary Outcome Measures :
  1. descriptive analysis [ Time Frame: 10 years ]
    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.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Individuals with a diagnosis of Primary Ciliary Dyskinesia.

Inclusion Criteria

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.

Exclusion Criteria Failure or unwillingness to give written informed consent. Missing qualification to perform legal acts or insufficient cognitive ability to give informed consent. A second disease is no exclusion criteria for including data in the PCD-Registry, especially since it is one of the fundamental goals, to learn about co-morbidities.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02419365

Layout table for location contacts
Contact: Claudius Werner, MD 004925183 ext 40021

Layout table for location information
University Hospital Münster Recruiting
Münster, NRW, Germany, 48149
Contact: Claudius Werner, MD    004925183 ext 40021   
Principal Investigator: Claudius Werner, MD         
Sponsors and Collaborators
University Hospital Muenster
European Commission

Additional Information:
Publications automatically indexed to this study by Identifier (NCT Number):
Layout table for additonal information
Responsible Party: Claudius Werner, Dr, University Hospital Muenster Identifier: NCT02419365     History of Changes
Other Study ID Numbers: PCD_Registry_BESTCILIA
First Posted: April 17, 2015    Key Record Dates
Last Update Posted: April 17, 2015
Last Verified: April 2015

Keywords provided by Claudius Werner, University Hospital Muenster:
Primary Ciliary Dyskinesia (PCD)

Additional relevant MeSH terms:
Layout table for MeSH terms
Ciliary Motility Disorders
Kartagener Syndrome
Movement Disorders
Central Nervous System Diseases
Nervous System Diseases
Neurologic Manifestations
Signs and Symptoms
Respiratory Tract Diseases
Otorhinolaryngologic Diseases
Abnormalities, Multiple
Congenital Abnormalities
Genetic Diseases, Inborn
Bronchial Diseases
Respiratory System Abnormalities
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Situs Inversus