Current and Future Treatments in Primary Ciliary Dyskinesia

Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia

(2021) Amelia Shoemark et al.   EUROPEAN RESPIRATORY JOURNAL

Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system

(2021) Isabella Aprea et al.   MOLECULAR HUMAN REPRODUCTION

Exacerbations and Pseudomonas aeruginosa colonization are associated with altered lung structure and function in primary ciliary dyskinesia

(2020) G. Piatti et al.   BMC Pediatrics

Respiratory Cilia as a Therapeutic Target of Phosphodiesterase Inhibitors

(2020) Marta Joskova et al.   Frontiers in Pharmacology

Efficacy and safety of azithromycin maintenance therapy in primary ciliary dyskinesia (BESTCILIA): a multicentre, double-blind, randomised, placebo-controlled phase 3 trial

(2020) Helene E Kobbernagel et al.   Lancet Respiratory Medicine

Sinus Development and Pneumatization in a Primary Ciliary Dyskinesia Cohort

(2020) Andrew K. Pappa et al.   American Journal of Rhinology & Allergy

ELX-02: an investigational read-through agent for the treatment of nonsense mutation-related genetic disease

(2020) Eitan Kerem   EXPERT OPINION ON INVESTIGATIONAL DRUGS

Motile ciliopathies

(2020) Julia Wallmeier et al.   Nature Reviews Disease Primers

Effectiveness of hypertonic saline nebulization in airway clearance in children with non‐cystic fibrosis bronchiectasis: A randomized control trial

(2020) Kodippilikande W. D. A. Anuradha et al.   PEDIATRIC PULMONOLOGY

Critical Evaluation of Sinonasal Disease in 64 Adults with Primary Ciliary Dyskinesia

(2019) Emilie Bequignon et al.   Journal of Clinical Medicine

Primary ciliary dyskinesia patients have the same P. aeruginosa clone in sinuses and lungs

(2019) Elisabeth Arndal et al.   EUROPEAN RESPIRATORY JOURNAL

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry

(2019) Julia Wallmeier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Randomization of Left-Right Asymmetry and Congenital Heart Defects

(2019) Tabea Nöthe-Menchen et al.   Circulation-Genomic and Precision Medicine

A 2 × 2 factorial, randomised, open-label trial to determine the clinical and cost-effectiveness of hypertonic saline (HTS 6%) and carbocisteine for airway clearance versus usual care over 52 weeks in adults with bronchiectasis: a protocol for the CLEAR clinical trial

(2019) Judy Martina Bradley et al.   Trials

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms

(2018) Inga M. Höben et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Azithromycin for Early Pseudomonas Infection in Cystic Fibrosis: The Optimize Randomized Trial

(2018) Nicole Mayer-Hamblett et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Are inhaled corticosteroids prescribed rationally in primary ciliary dyskinesia?

(2018) Eleonora Dehlink et al.   EUROPEAN RESPIRATORY JOURNAL

Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients

(2018) Tamara Paff et al.   HUMAN MUTATION

Hearing loss in children with primary ciliary dyskinesia

(2018) Kathryn L. Kreicher et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

N-acetylcysteine (NAC) in COPD: benefits often lost in trials

(2018) Subhabrata Moitra   QJM-AN INTERNATIONAL JOURNAL OF MEDICINE

Variation in treatment strategies for the eradication of Pseudomonas aeruginosa in primary ciliary dyskinesia across European centers

(2018) Suzanne Crowley et al.   Chronic Respiratory Disease

Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype

(2018) Stephanie D. Davis et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Lung function in patients with primary ciliary dyskinesia: an iPCD Cohort study

(2018) Florian S. Halbeisen et al.   EUROPEAN RESPIRATORY JOURNAL

A randomised controlled trial on the effect of inhaled hypertonic saline on quality of life in primary ciliary dyskinesia

(2017) Tamara Paff et al.   EUROPEAN RESPIRATORY JOURNAL

Growth and nutritional status, and their association with lung function: a study from the international Primary Ciliary Dyskinesia Cohort

(2017) Myrofora Goutaki et al.   EUROPEAN RESPIRATORY JOURNAL

Hypertonic saline in patients with primary ciliary dyskinesia: on the road to evidence-based treatment for a rare lung disease

(2017) Claudia E. Kuehni et al.   EUROPEAN RESPIRATORY JOURNAL

The patient’s experience of primary ciliary dyskinesia: a systematic review

(2017) Laura Behan et al.   QUALITY OF LIFE RESEARCH

Clinical impact of Pseudomonas aeruginosa colonization in patients with Primary Ciliary Dyskinesia

(2017) Malena Cohen-Cymberknoh et al.   RESPIRATORY MEDICINE

Clinical care of children with primary ciliary dyskinesia

(2017) Jane S. Lucas et al.   Expert Review of Respiratory Medicine

DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes

(2016) Gerard W. Dougherty et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis

(2016) Myrofora Goutaki et al.   EUROPEAN RESPIRATORY JOURNAL

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

(2016) Jane S. Lucas et al.   EUROPEAN RESPIRATORY JOURNAL

Systematic Analysis ofCCNOVariants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis

(2016) Israel Amirav et al.   HUMAN MUTATION

A longitudinal evaluation of hearing and ventilation tube insertion in patients with primary ciliary dyskinesia

(2016) Tobias Nicolai Andersen et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Gene editing ofDNAH11restores normal cilia motility in primary ciliary dyskinesia

(2016) Michele Lai et al.   JOURNAL OF MEDICAL GENETICS

Clinical characteristics, functional respiratory decline and follow-up in adult patients with primary ciliary dyskinesia

(2016) Justine Frija-Masson et al.   THORAX

Study protocol, rationale and recruitment in a European multi-centre randomized controlled trial to determine the efficacy and safety of azithromycin maintenance therapy for 6 months in primary ciliary dyskinesia

(2016) Helene E. Kobbernagel et al.   BMC Pulmonary Medicine

Sinus surgery can improve quality of life, lung infections, and lung function in patients with primary ciliary dyskinesia

(2016) Mikkel Christian Alanin et al.   International Forum of Allergy & Rhinology

Clinical Features of Childhood Primary Ciliary Dyskinesia by Genotype and Ultrastructural Phenotype

(2015) Stephanie D. Davis et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

A longitudinal study of lung bacterial pathogens in patients with primary ciliary dyskinesia

(2015) M.C. Alanin et al.   CLINICAL MICROBIOLOGY AND INFECTION

Long-term treatment with oral N-acetylcysteine: Affects lung function but not sputum inflammation in cystic fibrosis subjects. A phase II randomized placebo-controlled trial

(2015) C. Conrad et al.   Journal of Cystic Fibrosis

European Medicines Agency review of ataluren for the treatment of ambulant patients aged 5 years and older with Duchenne muscular dystrophy resulting from a nonsense mutation in the dystrophin gene

(2015) Manuel Haas et al.   NEUROMUSCULAR DISORDERS

Restoring ciliary function to differentiated primary ciliary dyskinesia cells with a lentiviral vector

(2014) L E Ostrowski et al.   GENE THERAPY

Two Cases of Primary Ciliary Dyskinesia with Different Responses to Macrolide Treatment

(2014) Takashi Kido et al.   INTERNAL MEDICINE

Presentation of primary ciliary dyskinesia in children: 30 years' experience

(2014) Patrick H Hosie et al.   JOURNAL OF PAEDIATRICS AND CHILD HEALTH

Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

(2014) Julia Wallmeier et al.   NATURE GENETICS

Multicenter analysis of body mass index, lung function, and sputum microbiology in primary ciliary dyskinesia

(2014) Marco Maglione et al.   PEDIATRIC PULMONOLOGY

MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia

(2014) Mieke Boon et al.   Nature Communications

Twice daily N-acetylcysteine 600 mg for exacerbations of chronic obstructive pulmonary disease (PANTHEON): a randomised, double-blind placebo-controlled trial

(2014) Jin-Ping Zheng et al.   Lancet Respiratory Medicine

Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial

(2014) Eitan Kerem et al.   Lancet Respiratory Medicine

Primary Ciliary Dyskinesia. Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease

(2013) Michael R. Knowles et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Effect of Azithromycin Maintenance Treatment on Infectious Exacerbations Among Patients With Non–Cystic Fibrosis Bronchiectasis

(2013) Josje Altenburg et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Management of primary ciliary dyskinesia in European children: recommendations and clinical practice

(2012) Marie-Pierre F. Strippoli et al.   EUROPEAN RESPIRATORY JOURNAL

Middle ear ventilation in children with primary ciliary dyskinesia

(2012) Nikolaus E. Wolter et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Azithromycin for prevention of exacerbations in non-cystic fibrosis bronchiectasis (EMBRACE): a randomised, double-blind, placebo-controlled trial

(2012) Conroy Wong et al.   LANCET

Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model

(2012) Jeremy C McIntyre et al.   NATURE MEDICINE

The long term effect of inhaled hypertonic saline 6% in non-cystic fibrosis bronchiectasis

(2012) Caroline H.H. Nicolson et al.   RESPIRATORY MEDICINE

Restoration of the Dystrophin-associated Glycoprotein Complex After Exon Skipping Therapy in Duchenne Muscular Dystrophy

(2011) Sebahattin Cirak et al.   MOLECULAR THERAPY

Lung Function in Patients with Primary Ciliary Dyskinesia

(2010) June K. Marthin et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Otologic Features in Children With Primary Ciliary Dyskinesia

(2010) Virginie Prulière-Escabasse et al.   ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY

Mechanisms of Action and Clinical Application of Macrolides as Immunomodulatory Medications

(2010) S. Kanoh et al.   CLINICAL MICROBIOLOGY REVIEWS

ENT manifestations in patients with primary ciliary dyskinesia: prevalence and significance of otorhinolaryngologic co-morbidities

(2010) J. Ulrich Sommer et al.   EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY

Agenesis of paranasal sinuses and nasal nitric oxide in primary ciliary dyskinesia

(2010) M. Pifferi et al.   EUROPEAN RESPIRATORY JOURNAL

Primary Ciliary Dyskinesia that Responded to Long-Term, Low-Dose Clarithromycin

(2010) Daisuke Yoshioka et al.   INTERNAL MEDICINE

British Thoracic Society guideline for non-CFbronchiectasis

(2010) M. C. Pasteur et al.   THORAX

Conditional Deletion ofDnaic1in a Murine Model of Primary Ciliary Dyskinesia Causes Chronic Rhinosinusitis

(2009) Lawrence E. Ostrowski et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children

(2009) A. Barbato et al.   EUROPEAN RESPIRATORY JOURNAL

Health-related quality of life and unmet needs in patients with primary ciliary dyskinesia

(2009) M. Pifferi et al.   EUROPEAN RESPIRATORY JOURNAL

Ciliary Beating Recovery in Deficient Human Airway Epithelial Cells after Lentivirus Ex Vivo Gene Therapy

(2009) Brigitte Chhin et al.   PLoS Genetics

Structural and Functional Lung Disease in Primary Ciliary Dyskinesia

(2008) Francesca Santamaria et al.   CHEST

Recent advances in gene therapy for severe congenital immunodeficiency diseases

(2008) Robert Sokolic et al.   CURRENT OPINION IN HEMATOLOGY