Nasal Nitric Oxide Across Mutations in Primary Ciliary Dyskinesia

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.

The aims of this study are:

1. Correlation between nasal NO levels and distinct PCD genotypes
2. Determination of further parameters potentially associated with nasal NO levels in genotyped PCD individuals

1. course of clinical manifestations (e.g. neonatal distress, infections, bronchiectasis)
2. diagnostic results (HVMA, TEM, IF)
3. lung function outcome (FVC, FEV1)

Conditions

• Ciliary Motility Disorders
• Primary Ciliary Dyskinesia

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,Dr,MD · University Hospital Muenster

Eligibility

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2021-01-01

Primary Completion

2022-06-30

Completion

2022-12-31

Countries

• Germany

Study Locations