Nasal Nitric Oxide Across Mutations in Primary Ciliary Dyskinesia
nNO_PCD
High or Low. Nasal Nitric Oxide Across Mutations in Primary Ciliary Dyskinesia. A Genotype/Phenotype Analysis of Nasal NO in Patients With PCD Within the European Reference Network (ERN)
1 other identifier
observational
2,000
1 country
1
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 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
- 3.course of clinical manifestations (e.g. neonatal distress, infections, bronchiectasis)
- 4.diagnostic results (HVMA, TEM, IF)
- 5.lung function outcome (FVC, FEV1)
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Jan 2021
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
January 1, 2021
CompletedFirst Submitted
Initial submission to the registry
June 24, 2021
CompletedFirst Posted
Study publicly available on registry
July 2, 2021
CompletedPrimary Completion
Last participant's last visit for primary outcome
June 30, 2022
CompletedStudy Completion
Last participant's last visit for all outcomes
December 31, 2022
CompletedJuly 2, 2021
June 1, 2021
1.5 years
June 24, 2021
June 24, 2021
Conditions
Outcome Measures
Primary Outcomes (1)
Genotype-nasal Nitric Oxide Corelation
nNO in correlation to the genetic make-up
up to 20 years retrospective
Study Arms (1)
Genetic diagnosis
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
Eligibility Criteria
Patients with a genetically confirmed diagnosis of PCD (bi-allelic mutations in a gene, known to cause PCD) with typical clinical symptoms of PCD
You may qualify if:
- Patients with a genetically confirmed diagnosis of PCD (bi-allelic mutations in a gene, known to cause PCD) with typical clinical symptoms of PCD
- PCD individuals of all age groups with at least one nNO measurement performed according to diagnostic guidelines. Serial nNO measurements should be included if available (e.g. yearly), at least for infants and young children
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- University Hospital Muensterlead
- Rigshospitalet, Denmarkcollaborator
- Hospital Vall d'Hebroncollaborator
- KU Leuvencollaborator
- Amsterdam UMC, location VUmccollaborator
- University of Valenciacollaborator
- NOVA Medical Schoolcollaborator
- University of Geneva, Switzerlandcollaborator
- University of Berncollaborator
- Ruhr University of Bochumcollaborator
- Charite University, Berlin, Germanycollaborator
- Hannover Medical Schoolcollaborator
- Medical University of Viennacollaborator
- Royal Brompton & Harefield NHS Foundation Trustcollaborator
- University College, Londoncollaborator
- University of Dundeecollaborator
- University of Southamptoncollaborator
- University of Leicestercollaborator
- University of Pisacollaborator
- Federico II Universitycollaborator
- Bambino Gesù Hospital and Research Institutecollaborator
- University of Nicosiacollaborator
- Oslo University Hospitalcollaborator
- Hospital de Niños R. Gutierrez de Buenos Airescollaborator
- Hacettepe Universitycollaborator
- Marmara Universitycollaborator
- University Hospital, Motolcollaborator
- University Children's Hospital, Zurichcollaborator
- The Leeds Teaching Hospitals NHS Trustcollaborator
- Hadassah Medical Organizationcollaborator
- Göteborg Universitycollaborator
- Schneider Children's Medical Center, Israelcollaborator
- University of Sao Paulocollaborator
- University Hospital of Colognecollaborator
- University of Belgradecollaborator
- University Hospital, Martincollaborator
- Abderrahmane Mami Hospitalcollaborator
Study Sites (1)
University Hospital Münster
Münster, North Rhine-Westphalia, 48149, Germany
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- STUDY CHAIR
Heymut Omran, Prof,Dr,MD
University Hospital Muenster
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- CASE CONTROL
- Time Perspective
- RETROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
June 24, 2021
First Posted
July 2, 2021
Study Start
January 1, 2021
Primary Completion
June 30, 2022
Study Completion
December 31, 2022
Last Updated
July 2, 2021
Record last verified: 2021-06