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

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 in about 50% of cases) and fertility problems. At present, mutations in \> 45 genes associated with PCD and mucociliary clearance disorders have been identified, representing most likely two thirds of all human cases.

Aim of this study are:

* Correlation between genotype and lung function of patients with genetically confirmed PCD in an international cohort on a longitudinal basis
* Determination of further parameters, such as body mass index (BMI), possibly associated with lung function in genetically confirmed PCD patients

Conditions

• Ciliary Motility Disorders
• Primary Ciliary Dyskinesia

Interventions

GENETIC

Genetic diagnosis

No Intervention foreseen, but 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 is needed

Sponsors & Collaborators

• Rigshospitalet, Denmark

  collaborator OTHER

• Hospital Vall d'Hebron

  collaborator OTHER

• KU Leuven

  collaborator OTHER

• Amsterdam UMC, location VUmc

  collaborator OTHER

• University of Valencia

  collaborator OTHER

• NOVA Medical School

  collaborator OTHER

• University of Geneva, Switzerland

  collaborator OTHER

• University of Bern

  collaborator OTHER

• Ruhr University of Bochum

  collaborator OTHER

• Charite University, Berlin, Germany

  collaborator OTHER

• Hannover Medical School

  collaborator OTHER

• Medical University of Vienna

  collaborator OTHER

• Royal Brompton & Harefield NHS Foundation Trust

  collaborator OTHER

• University College, London

  collaborator OTHER

• University of Dundee

  collaborator OTHER

• University of Southampton

  collaborator OTHER

• University of Leicester

  collaborator OTHER

• University of Pisa

  collaborator OTHER

• Federico II University

  collaborator OTHER

• Bambino Gesù Hospital and Research Institute

  collaborator OTHER

• University of Nicosia

  collaborator OTHER

• Oslo University Hospital

  collaborator OTHER

• Hospital de Niños R. Gutierrez de Buenos Aires

  collaborator OTHER

• Hacettepe University

  collaborator OTHER

• Marmara University

  collaborator OTHER

• University Hospital, Motol

  collaborator OTHER

• University Children's Hospital, Zurich

  collaborator OTHER

• The Leeds Teaching Hospitals NHS Trust

  collaborator OTHER

• Hadassah Medical Organization

  collaborator OTHER

• Göteborg University

  collaborator OTHER

• Schneider Children's Medical Center, Israel

  collaborator OTHER

• University of Sao Paulo

  collaborator OTHER

• University Hospital of Cologne

  collaborator OTHER

• University of Belgrade

  collaborator OTHER

• University Hospital, Martin

  collaborator OTHER

• Abderrahmane Mami Hospital

  collaborator OTHER

• University Hospital Muenster

  lead OTHER

Principal Investigators

• Heymut Omran, Prof., MD · University Hospital Muenster

Eligibility

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2019-11-01

Primary Completion

2023-06-30

Completion

2023-11-30

Countries

• Germany

Study Locations