ReviewERJ open research2020
Registries and collaborative studies for primary ciliary dyskinesia in Europe.
Review in ERJ open research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
24 citing papers in PubMed.
- Mapping challenges in the delivery of care for primary ciliary dyskinesia: an international survey on barriers and priorities.ERJ open research · 2026Article
- Clinical and Genetic Study of a Pseudo-Dominant Primary Ciliary Dyskinesia Pedigree: The First DNAAF1-Associated Family Reported in Chinese Population.Molecular genetics & genomic medicine · 2026Article
- Early Life Disease Burden and Outcomes in Children Diagnosed With Primary Ciliary Dyskinesia in Infancy.Pediatric pulmonology · 2026Article
- Article
- Primary ciliary dyskinesia.Paediatrics & child health · 2025Article
- The RaDiCo information system for rare disease cohorts.Orphanet journal of rare diseases · 2025Article
- Primary ciliary dyskinesia: a case report of double DNAH11 mutant alleles.Medicine and pharmacy reports · 2025Article
- Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia.Pediatric pulmonology · 2024Article
- Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.The European respiratory journal · 2024Article
- Estimates of primary ciliary dyskinesia prevalence: a scoping review.ERJ open research · 2024Article
- Primary Ciliary Dyskinesia.Pediatrics · 2024Review
- Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia.Human reproduction open · 2024Article
- Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility.Journal of assisted reproduction and genetics · 2023Article
- The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.ERJ open research · 2023Article
- Lung function from school age to adulthood in primary ciliary dyskinesia.The European respiratory journal · 2022Article
- The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN.ERJ open research · 2022Article
- Respiratory symptoms of Swiss people with primary ciliary dyskinesia.ERJ open research · 2022Article
- Chronic airway disease in primary ciliary dyskinesia-spiced with geno-phenotype associations.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Impact of Motile Ciliopathies on Human Development and Clinical Consequences in the Newborn.Cells · 2021Review
- Current and Future Treatments in Primary Ciliary Dyskinesia.International journal of molecular sciences · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary ciliary dyskinesia (PCD) is a rare inherited disease characterised by malfunctioning cilia leading to a heterogeneous clinical phenotype with many organ systems affected. There is a lack of data on clinical presentation, prognosis and effectiveness of treatments, making it mandatory to improve the scientific evidence base. This article reviews the data resources that are available in Europe for clinical and epidemiological research in PCD, namely established national PCD registries and national cohort studies, plus two large collaborative efforts (the international PCD (iPCD) Cohort and the International PCD Registry), and discusses their strengths, limitations and perspectives. Denmark, Cyprus, Norway and Switzerland have national population-based registries, while England and France conduct multicentre cohort studies. Based on the data contained in these registries, the prevalence of diagnosed PCD is 3-7 per 100 000 in children and 0.2-6 per 100 000 in adults. All registries, together with other studies from Europe and beyond, contribute to the iPCD Cohort, a collaborative study including data from over 4000 PCD patients, and to the International PCD Registry, which is part of the ERN (European Reference Network)-LUNG network. This rich resource of readily available, standardised and contemporaneous data will allow obtaining fast answers to emerging clinical and research questions in PCD.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.