Ciliary Motility Disorders (Primary Ciliary Dyskinesia)

Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms.

Also Known As:

Networked: 433 relevant articles (9 outcomes, 30 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Cystic Fibrosis (Mucoviscidosis)
2.	Asthma (Bronchial Asthma)
3.	Bronchiectasis
4.	Chronic Obstructive Pulmonary Disease (COPD)
5.	Pseudomonas Infections

Experts

1.	Omran, Heymut: 26 articles (01/2022 - 07/2005)
2.	Knowles, Michael R: 19 articles (11/2022 - 07/2005)
3.	Zariwala, Maimoona A: 18 articles (11/2022 - 07/2005)
4.	Olbrich, Heike: 18 articles (01/2022 - 07/2005)
5.	Hogg, Claire: 17 articles (04/2022 - 02/2009)
6.	Mitchison, Hannah M: 17 articles (10/2021 - 08/2002)
7.	Leigh, Margaret W: 16 articles (11/2022 - 12/2009)
8.	Escudier, Estelle: 16 articles (10/2022 - 11/2002)
9.	Nielsen, Kim G: 15 articles (04/2022 - 08/2013)
10.	Shoemark, Amelia: 14 articles (06/2021 - 02/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Ciliary Motility Disorders:

1.	Nitric Oxide (Nitrogen Monoxide)FDA Link 02/01/2006 - "Nasal nitric oxide (NO) concentration is dramatically reduced in primary ciliary dyskinesia (PCD). " 03/01/2016 - "Diagnosis of primary ciliary dyskinesia (PCD) lacks a "gold standard" test and is therefore based on combinations of tests including nasal nitric oxide (nNO), high-speed video microscopy analysis (HSVMA), genotyping and transmission electron microscopy (TEM). " 11/26/2020 - "In this study we examined two unrelated, Finnish families with symptoms of PCD applying the clinical scoring system: Primary ciliary dyskinesia Rule (PICADAR), high speed video microscopy analysis (HSVMA) for ciliary movement, a commercially available gene panel analysis and nasal Nitric Oxide (nNO) measurements if applicable. " 12/01/2013 - "Several studies suggest that nasal nitric oxide (nNO) measurement could be a test for primary ciliary dyskinesia (PCD), but the procedure and interpretation have not been standardized. " 12/01/2011 - "The goal of the present work was to study nitric oxide synthases expression in upper airway tissues from patients with primary ciliary dyskinesia. "
2.	Dyneins (Dynein)IBA 03/01/2000 - "The gold standard for the diagnosis of primary ciliary dyskinesia (PCD) is a dynein deficiency shown with transmission electron microscopy. " 10/01/2003 - "The function of members of the dynein superfamily whose existence has previously only been confirmed through genome databases, has been revealed by studies of immotile cilia syndrome. " 04/01/1994 - "Ciliary motion analysis demonstrated a total absence of ciliary motion whereas, ultrastructural studies revealed typical features of primary ciliary dyskinesia (PCD) (absence or short outer/inner dynein arms in 90% of the cilia). " 01/14/2023 - "DNAAF5 is a dynein motor assembly factor associated with the autosomal heterogenic recessive condition of motile cilia, primary ciliary dyskinesia (PCD). " 01/01/2023 - "ODAD1 variants resulting from splice-site mutations retain partial function and cause primary ciliary dyskinesia with outer dynein arm defects."
3.	Anti-Bacterial Agents (Antibiotics)IBA 01/01/2021 - "A retrospective review of Achromobacter species and antibiotic treatments in patients with primary ciliary dyskinesia." 03/01/2018 - "A 10-year-old female patient with primary ciliary dyskinesia was admitted to the general pediatrics floor with an acute respiratory exacerbation after several months of worsening lung function that was unresponsive to oral antibiotics. " 01/01/2015 - "The sinuses should be considered as a bacterial reservoir and a target for surgery and antibiotic treatment in patients with primary ciliary dyskinesia (PCD). " 10/01/1997 - "It is concluded that primary ciliary dyskinesia is accompanied by a progressive deterioration in lung function if undertreated, but lung function can be maintained with appropriate antibiotic treatment and regular physiotherapy. " 05/10/2021 - "We report a Japanese 5-year-old boy with primary ciliary dyskinesia (PCD) which was diagnosed owing to Clostridium difficile (CD) infection caused by prolonged antibiotic exposure. "
4.	Epithelial Sodium ChannelsIBA 08/31/2023 - "Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial." 08/31/2023 - "We undertook a study to assess the benefit on lung function of treatment with a nebulised epithelial sodium channel (ENaC) blocker, idrevloride, with or without hypertonic saline, in people with primary ciliary dyskinesia. " 05/01/2018 - "Among bronchiectasis patients, 25 (15.4%), 117 (72.2%) and 18 (11.1%) rare variants were associated with cystic fibrosis transmembrane receptor (CFTR), epithelial sodium channel, and primary ciliary dyskinesia genes, respectively. "
5.	Colloids (Colloid)IBA 05/01/2005 - "A study was undertaken to assess the reliability of the nasal mucociliary transport test using 99mTc-albumin colloid as a screening test for primary ciliary dyskinesia (PCD) and to compare it with the gold standard nasal biopsy for study of ciliary motility and ultrastructure. " 09/01/2023 - "Quantitative 99mTc-albumin colloid nasal mucociliary clearance as an outcome in primary ciliary dyskinesia." 05/01/2005 - "Mucociliary transport using 99mTc-albumin colloid: a reliable screening test for primary ciliary dyskinesia."
6.	Tissue Plasminogen Activator (Alteplase)FDA Link 02/13/2014 - "Early intermittent, self-administered nebulization of tissue plasminogen activator was found to be effective in preventing deterioration of acute respiratory symptoms in a patient with primary ciliary dyskinesia and recurrent cast formation. "
7.	Proteins (Proteins, Gene)FDA Link 02/01/2022 - "On the other hand, some recent studies have also found that ZMYND10 is a ciliary protein that is essential for ciliary structure and function and is mutated in primary ciliary dyskinesia (PCD). " 03/01/2011 - "Genetic studies involving human patients and mouse models of primary ciliary dyskinesia over the last decade have uncovered a number of important ciliary proteins and have begun to elucidate the mechanisms underlying ciliary motility. " 07/01/2021 - "Multifaceted analysis of Japanese cases of primary ciliary dyskinesia: Value of immunofluorescence for ciliary protein detection in patients with DNAH5 and DNAH11 mutations." 02/01/2021 - "Zinc finger MYND-type containing 10 (ZMYND10) is a ciliary protein that was recently found to be mutated in patients with primary ciliary dyskinesia (PCD). " 02/01/2021 - "Primary ciliary dyskinesia relative protein ZMYND10 is involved in regulating ciliary function and intraflagellar transport in Paramecium tetraurelia."
8.	Azithromycin (Zithromax)FDA LinkGeneric 01/01/2022 - "Long-Term Azithromycin Treatment in Pediatric Primary Ciliary Dyskinesia: A Retrospective Study." 01/01/2020 - "Azithromycin for primary ciliary dyskinesia: a milestone." 01/01/2020 - "Efficacy and safety of azithromycin maintenance therapy in primary ciliary dyskinesia (BESTCILIA): a multicentre, double-blind, randomised, placebo-controlled phase 3 trial." 07/22/2016 - "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." 01/01/2020 - "With the exception of azithromycin, there is no evidence-based treatment for primary ciliary dyskinesia; therapies aim at relieving symptoms and reducing the effects of reduced ciliary motility."
9.	Axonemal DyneinsIBA 06/13/2023 - "Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice." 12/12/2022 - "Dynein axonemal heavy chain 5 (DNAH5) is the most mutated gene in primary ciliary dyskinesia (PCD), leading to abnormal cilia ultrastructure and function. " 10/15/2021 - "The Drosophila orthologue of the primary ciliary dyskinesia-associated gene, DNAAF3, is required for axonemal dynein assembly." 10/01/2021 - "Background: Dynein, axonemal, heavy chain 1 (DNAH1) gene mutations have been found to be related to primary ciliary dyskinesia (PCD) and the DNAH1 gene is associated with abnormal flagellar morphology in spermatozoa. " 12/01/2020 - "Novel dynein axonemal assembly factor 1 mutations identified using whole‑exome sequencing in patients with primary ciliary dyskinesia."
10.	Protein Isoforms (Isoforms)IBA 03/01/2011 - "No study has evaluated the correlation between different expression of nitric oxide synthase (NOS) isoforms in nasal epithelial cells and nasal NO (nNO) level in primary ciliary dyskinesia (PCD). " 04/17/2009 - "Recent studies indicate that derangements in adenylate kinase-mediated energetic signaling due to mutations in AK1, AK2 or AK7 isoforms are associated with hemolytic anemia, reticular dysgenesis and ciliary dyskinesia. "

Therapies and Procedures

1.	Therapeutics 01/01/2023 - "Restoring Ciliary Function: Gene Therapeutics for Primary Ciliary Dyskinesia." 01/01/2023 - "Domiciliary High-Flow Nasal Therapy in Primary Ciliary Dyskinesia." 12/01/2020 - "Comparison of conventional chest physiotherapy and oscillatory positive expiratory pressure therapy in primary ciliary dyskinesia." 01/01/2019 - "Individualized physical training in the therapy of Primary Ciliary Dyskinesia - A case report." 03/01/2004 - "[Therapy of primary ciliary dyskinesia]."
2.	Chest Wall Oscillation 06/01/2014 - "Comparison of conventional pulmonary rehabilitation and high-frequency chest wall oscillation in primary ciliary dyskinesia." 10/06/2008 - "High Frequency Chest Wall Oscillation (HFCWO) has been shown to be effective in helping to clear secretions from the lungs of patients with cystic fibrosis, bronchiectasis, asthma, primary ciliary dyskinesia, emphysema, COPD, and many others. "
3.	Gamma Cameras (Gamma Camera) 04/01/2000 - "Patients with cystic fibrosis (CF) and primary ciliary dyskinesia (PCD) have been shown to have impaired large airway clearance of radiolabelled particles as measured by external gamma camera scanning up to 6 hours post deposition. "
4.	Electronic Nose 01/01/2014 - "In this explorative study, we investigated whether or not a non-invasive exhaled breath analysis using an electronic nose would discriminate between cystic fibrosis (CF) and primary ciliary dyskinesia (PCD) with or without various well characterized chronic pulmonary infections. " 01/01/2014 - "Exhaled breath analysis using electronic nose in cystic fibrosis and primary ciliary dyskinesia patients with chronic pulmonary infections."
5.	Lung Transplantation 06/01/2001 - "Living-donor lobar lung transplantation for primary ciliary dyskinesia." 09/01/1999 - "[Primary ciliary dyskinesia treated with living-donor lobar lung transplantation]." 04/01/2022 - "A 36-year-old female with a past medical history of primary ciliary dyskinesia and bilateral lung transplantation was noted to have a rare and confounding postsurgical anatomy acquired as a result of transplantation. " 06/01/2018 - "A 41-year-old woman with primary ciliary dyskinesia underwent cadaveric bilateral lung transplantation without cardiopulmonary bypass. " 06/01/2001 - "A ventilator-dependent patient with primary ciliary dyskinesia underwent successful living-donor lobar lung transplantation. "