Clinical Research Directory

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.