NCT04717115

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. 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

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
1,500

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Nov 2019

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

November 1, 2019

Completed
1.2 years until next milestone

First Submitted

Initial submission to the registry

January 12, 2021

Completed
8 days until next milestone

First Posted

Study publicly available on registry

January 20, 2021

Completed
2.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 30, 2023

Completed
5 months until next milestone

Study Completion

Last participant's last visit for all outcomes

November 30, 2023

Completed
Last Updated

July 5, 2022

Status Verified

June 1, 2022

Enrollment Period

3.7 years

First QC Date

January 12, 2021

Last Update Submit

July 1, 2022

Conditions

Ciliary Motility DisordersPrimary Ciliary Dyskinesia

Outcome Measures

Primary Outcomes (1)

  • Genotype-Lungfunction Correlation

    Lung function (FEV1, FVC, FEF) in correlation to the genetic make-up

    up to 20 years (retrospective)

Study Arms (1)

Genetic diagnosis

Genetic: Genetic diagnosis

Interventions

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

Genetic diagnosis

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
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

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

Study Sites (1)

University Hospital Münster

Münster, North Rhine-Westphalia, 48149, Germany

RECRUITING

MeSH Terms

Conditions

Ciliary Motility Disorders

Condition Hierarchy (Ancestors)

Respiratory Tract DiseasesOtorhinolaryngologic DiseasesCiliopathiesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGenetic Diseases, Inborn

Study Officials

  • Heymut Omran, Prof., MD

    University Hospital Muenster

    STUDY CHAIR

Central Study Contacts

Johanna Raidt, MD

CONTACT

+49 251 83 40003Johanna.Raidt@ukmuenster.de

Simone Helms

CONTACT

+ 49 251 83 48358Simone.Helms@ukmuenster.de

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
RETROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

January 12, 2021

First Posted

January 20, 2021

Study Start

November 1, 2019

Primary Completion

June 30, 2023

Study Completion

November 30, 2023

Last Updated

July 5, 2022

Record last verified: 2022-06

Locations

DE(1)