Ciliary Motility DisordersLuFu_PCDNCT04717115
Genotype/Phenotype Correlation With Focus on Lung Function in Primary Ciliary Dyskinesia (PCD)
An observational study of Ciliary Motility Disorders and Primary Ciliary Dyskinesia, run by University Hospital Muenster at 1 site in Germany.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Ciliary Motility Disorders, Primary Ciliary Dyskinesia
- What is being tested?
- Genetic diagnosis
- How many people
- 1,500 participants
- Where
- 1 siteGermany
- Study dates
- 1 Nov 2019to 30 Nov 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: PCD patients with proven bi-allelic mutations in a gene known to cause PCD
- 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
Trial locations and contacts
1 site in 1 country.
Germany1 site, 1 recruiting
- Recruiting
University Hospital Münster
Münster, North Rhine-Westphalia, 48149
Heymut Omran, Prof. Dr. MD, 004925183 ext. 41097, PCDregistry.eu@ukmuenster.de
Simone Helms, +4925183 ext. 48358, Simone.Helms@ukmuenster.de
About this study
Official title: An International Study on Genotype/Phenotype Correlation With Focus on Lung Function in Patients With Primary Ciliary Dyskinesia (PCD)
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
Read the 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 inversus totalis in about 50% of cases) and fertility problems. At present, mutations in > 40 genes associated with PCD and mucociliary clearance disorders have been identified, representing most likely two thirds of all human cases. While being involved in the majority of identified PCD genes, our working group has a great expertise in genetic analysis and diagnostic work-up of patients with PCD.
Hallmark symptom of PCD is the chronic purulent lung disease due to the reduced mucociliary clearance. Chronic inflammation and recurrent infections of the airways promote continuous lung damage, bronchiectasis and could finally lead to total lung failure. For other congenital diseases with chronic lung conditions, e.g. cystic fibrosis (CF), an affected lung function with a steady decline is well described and spirometry is widely used to monitor disease progression. For PCD there are only limited data available and studies often comprise small cohorts. In general, available data assume a decline of lung function in PCD patients compared to healthy individuals, but less pronounced than in CF. Altogether, results of the studies remain heterogeneous, in particular concerning the influence of an early diagnosis and a proper treatment on lung function.
Furthermore, despite a significant progression in genetically solved cases there are almost no data on genotype specific lung function in patients with PCD. Recently, there are few studies indicating an association between specific ultrastructural or genetic defects, e.g. patients carrying mutations in the genes MCIDAS (Multicilin), CCNO (Cyclin O), CCDC39 (Coiled-Coil Domain Containing 39) and CCDC40 (Coiled-Coil Domain Containing 40) and a severe clinical course in particular a worse respiratory phenotype. There might be a less severe phenotype in PCD sub-types due to mutations in genes encoding radial spoke components.
Currently a systematic review shows the high variation of spirometric indices in a great PCD cohort. These findings underline the great necessity of detailed characterization of genotype specific phenotypes with focus on important parameters such as lung function to better understand the natural history of distinct PCD-variants with a view to improve individual patient care by tailored treatment activity according to likely disease severity.
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
Inclusion 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 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 (forced expiratory volume in 1 second), FVC (forced vital capacity), FEV1/FVC, FEF (forced expiratory flow) 25-75) (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 (NCT02419365) with all necessary values within the anticipated time schedules
- Being tested
- Genetic diagnosis
- Medical subject headings
- Ciliary Motility Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic diagnosisGenetic
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
| Study group | Role | What they receive |
|---|---|---|
| Genetic diagnosis | Not described Receives: Genetic: Genetic diagnosis |
What is being measured
The primary outcome is the main question the study is designed to answer.
Genotype-Lungfunction Correlation
Lung function (FEV1, FVC, FEF) in correlation to the genetic make-up
Measured: up to 20 years (retrospective)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Jan 2021
- Study start1 Nov 2019
- Primary completion30 Jun 2023 (estimated)
- Study completion30 Nov 2023 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Ciliary Motility DisordersStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Retrospective
- Enrolment
- 1,500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital Muenster
- Sponsor type
- University, hospital or other
- Collaborators
- Copenhagen University Hospital, Rigshospitalet, Hospital Vall d'Hebron, KU Leuven, Amsterdam UMC, location VUmc, University of Valencia, NOVA Medical School, University of Geneva, Switzerland, University of Bern, Ruhr University of Bochum, Charite University, Berlin, Germany, Hannover Medical School, Medical University of Vienna, Royal Brompton & Harefield NHS Foundation Trust, University College, London, University of Dundee, University of Southampton, University of Leicester, University of Pisa, Federico II University, Bambino Gesù Hospital and Research Institute, University of Nicosia, Oslo University Hospital, Hospital de Niños R. Gutierrez de Buenos Aires, Hacettepe University, Marmara University, University Hospital, Motol, University Children's Hospital, Zurich, The Leeds Teaching Hospitals NHS Trust, Hadassah Medical Organization, Göteborg University, Schneider Children's Medical Center, Israel, University of Sao Paulo, University Hospital of Cologne, University of Belgrade, University Hospital, Martin, Abderrahmane Mami Hospital
- Responsible party
- Sponsor
- Investigators
- Heymut Omran, Prof., MD, Study chair, University Hospital Muenster
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04717115
- Sponsor's protocol ID
- JR_Lufu_PCD_01_2020-1
- Acronym
- LuFu_PCD
- Status last verified
- Jun 2022
- First submitted
- 12 Jan 2021
- Last updated
- 5 Jul 2022
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 5 Jul 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An International Study on Genotype/Phenotype Correlation With Focus on Lung Function in Patients With Primary Ciliary Dyskinesia (PCD)
- ClinicalTrials.gov ID
- NCT04717115
- Acronym / sponsor ID
- LuFu_PCD / JR_Lufu_PCD_01_2020-1
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 1,500 participants (estimated)
- Lead sponsor
- University Hospital MuensterUniversity, hospital or other
- Collaborators
- Copenhagen University Hospital, Rigshospitalet, Hospital Vall d'Hebron, KU Leuven, Amsterdam UMC, location VUmc, University of Valencia, NOVA Medical School, University of Geneva, Switzerland, University of Bern, Ruhr University of Bochum, Charite University, Berlin, Germany, Hannover Medical School, Medical University of Vienna, Royal Brompton & Harefield NHS Foundation Trust, University College, London, University of Dundee, University of Southampton, University of Leicester, University of Pisa, Federico II University, Bambino Gesù Hospital and Research Institute, University of Nicosia, Oslo University Hospital, Hospital de Niños R. Gutierrez de Buenos Aires, Hacettepe University, Marmara University, University Hospital, Motol, University Children's Hospital, Zurich, The Leeds Teaching Hospitals NHS Trust, Hadassah Medical Organization, Göteborg University, Schneider Children's Medical Center, Israel, University of Sao Paulo, University Hospital of Cologne, University of Belgrade, University Hospital, Martin, Abderrahmane Mami Hospital
- Study start
- 1 Nov 2019 (actual)
- Primary completion
- 30 Jun 2023 (estimated)
- Study completion
- 30 Nov 2023 (estimated)
- First posted
- 20 Jan 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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 inversus totalis in about 50% of cases) and fertility problems. At present, mutations in > 40 genes associated with PCD and mucociliary clearance disorders have been identified, representing most likely two thirds of all human cases. While being involved in the majority of identified PCD genes, our working group has a great expertise in genetic analysis and diagnostic work-up of patients with PCD.
Hallmark symptom of PCD is the chronic purulent lung disease due to the reduced mucociliary clearance. Chronic inflammation and recurrent infections of the airways promote continuous lung damage, bronchiectasis and could finally lead to total lung failure. For other congenital diseases with chronic lung conditions, e.g. cystic fibrosis (CF), an affected lung function with a steady decline is well described and spirometry is widely used to monitor disease progression. For PCD there are only limited data available and studies often comprise small cohorts. In general, available data assume a decline of lung function in PCD patients compared to healthy individuals, but less pronounced than in CF. Altogether, results of the studies remain heterogeneous, in particular concerning the influence of an early diagnosis and a proper treatment on lung function.
Furthermore, despite a significant progression in genetically solved cases there are almost no data on genotype specific lung function in patients with PCD. Recently, there are few studies indicating an association between specific ultrastructural or genetic defects, e.g. patients carrying mutations in the genes MCIDAS (Multicilin), CCNO (Cyclin O), CCDC39 (Coiled-Coil Domain Containing 39) and CCDC40 (Coiled-Coil Domain Containing 40) and a severe clinical course in particular a worse respiratory phenotype. There might be a less severe phenotype in PCD sub-types due to mutations in genes encoding radial spoke components.
Currently a systematic review shows the high variation of spirometric indices in a great PCD cohort. These findings underline the great necessity of detailed characterization of genotype specific phenotypes with focus on important parameters such as lung function to better understand the natural history of distinct PCD-variants with a view to improve individual patient care by tailored treatment activity according to likely disease severity.
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
Inclusion 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 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 (forced expiratory volume in 1 second), FVC (forced vital capacity), FEV1/FVC, FEF (forced expiratory flow) 25-75) (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 (NCT02419365) with all necessary values within the anticipated time schedules
Study design
- Observational model
- Case-control
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Genetic diagnosis | – | Genetic: Genetic diagnosis |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- PCD patients with proven bi-allelic mutations in a gene known to cause PCD
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Genetic diagnosisNo 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 | Genetic | Genetic diagnosis |
Primary outcome
Genotype-Lungfunction Correlation
Time frame: up to 20 years (retrospective)
Lung function (FEV1, FVC, FEF) in correlation to the genetic make-up
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Jul 2022.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Heymut Omran, Prof., MD study chair
University Hospital Muenster
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Ciliary Motility Disorders and Primary Ciliary Dyskinesia, run by University Hospital Muenster at 1 site in Germany.
The full registered description is in the About this study section and the official record.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 5 Jul 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Germany. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Johanna Raidt, MD (+49 251 83 40003, Johanna.Raidt@ukmuenster.de), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Genotype-Lungfunction Correlation (time frame: up to 20 years (retrospective)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Jul 2022.