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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    Page 1 of 1 (1 locations)

    1

    University Hospital Münster

    Münster, North Rhine-Westphalia, Germany, 48149

    Genotype/Phenotype Correlation With Focus on Lung Function in Primary Ciliary Dyskinesia (PCD) | DecenTrialz