Status:
UNKNOWN
Genotype/Phenotype Correlation With Focus on Lung Function in Primary Ciliary Dyskinesia (PCD)
Lead Sponsor:
University Hospital Muenster
Collaborating Sponsors:
Rigshospitalet, Denmark
Hospital Vall d'Hebron
Conditions:
Ciliary Motility Disorders
Primary Ciliary Dyskinesia
Eligibility:
All Genders
Brief Summary
Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder characterized by dysfunction of motile cilia associated with recurrent infections of the airways, laterality defects (Situs inversus totalis...
Detailed Description
Background Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder characterized by dysfunction of motile cilia associated with recurrent infections of the airways, laterality defects (Situs inver...
Eligibility Criteria
Inclusion
- Patients with a genetically confirmed diagnosis of PCD (bi-allelic mutations in a gene, known to cause PCD) with typical clinical symptoms of PCD and at least one other method confirming PCD-diagnosis
- Children and adults diagnosed with PCD of all age groups and able to perform spirometry
- Longitudinal datasets with measurements of lung function (FEV1, FVC, FEV1/FVC, FEF25-75) (with date and height at the performed measurement, respectively) at least 3-4 different measurements in at least 2 years of follow up are expected - in cases where this is not possible, sporadic data could also be provided
- Delivery of datasets to the international PCD registry (14) with all necessary values within the anticipated time schedules
Exclusion
Key Trial Info
Start Date :
November 1 2019
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
November 30 2023
Estimated Enrollment :
1500 Patients enrolled
Trial Details
Trial ID
NCT04717115
Start Date
November 1 2019
End Date
November 30 2023
Last Update
July 5 2022
Active Locations (1)
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1
University Hospital Münster
Münster, North Rhine-Westphalia, Germany, 48149