primary ciliary dyskinesia

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Information
Disease name
primary ciliary dyskinesia
Disease ID
DOID:9562
Description
"A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube." [url:http\://en.wikipedia.org/wiki/Primary_ciliary_dyskinesia]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT03801395 Active, not recruiting PCD New Gene Discovery January 7, 2019 October 1, 2024
NCT04476433 Completed N/A Intervention in Chronic Pediatric Patients and Their Families. February 4, 2019 December 30, 2023
NCT03832491 Completed N/A Effect of Game Based Approach on Oxygenation, Functional Capacity and Quality of Life in Primary Ciliary Dyskinesia May 20, 2019 February 5, 2020
NCT04161313 Completed Respiratory Function, Exercise Capacity and Peripheral Muscle Strength Among Patients With CF, PCD and Healthy Children December 20, 2019 March 12, 2020
NCT00005650 Completed Genetic Study of Patients With Primary Ciliary Dyskinesia February 2000
NCT06028607 Completed N/A Feasibility of Consumption of Nutritional Supplementation in Primary Ciliary Dyskinesia May 17, 2021 February 28, 2022
NCT00783887 Completed Diagnosis of Primary Ciliary Dyskinesia January 2010 December 2012
NCT05816876 Completed Muscle Function, Exercise Capacity and Physical Activity Level in Primary Ciliary Dyskinesia and Kartagener Syndrome November 10, 2016 February 1, 2023
NCT01155115 Completed N/A Inflammatory and Microbiologic Markers in Sputum: Comparing Cystic Fibrosis With Primary Ciliary Dyskinesia January 2010 December 2014
NCT01246258 Completed Otolith Function in Patients With Primary Ciliary Dyskinesia September 2010 December 2013
NCT05712798 Completed Physiological Responses to Exercise Tests in Primary Ciliary Dyskinesia Compared With Healthy Individuals October 7, 2020 October 7, 2023
NCT02389049 Completed Genetics of Primary Ciliary Dyskinesia February 2015 July 2018
NCT05040607 Completed Physical Fitness, Exercise Capacity and Activities of Daily Living in Primary Ciliary Dyskinesia: a Retrospective Study January 21, 2020 February 10, 2020
NCT02871778 Completed Phase 2 Clearing Lungs With ENaC Inhibition in Primary Ciliary Dyskinesia August 2016 November 20, 2018
NCT03271840 Completed Registry for Primary Ciliary Dyskinesia August 26, 2017 November 25, 2021
NCT04895150 Completed Upper Extremity Exercise Capacity, Muscle Oxygenation, Balance in Patients With Primary Ciliary Dyskinesia June 1, 2021 May 15, 2022
NCT04858191 Completed Utilizing Hyperpolarized 129Xe Magnetic Resonance Imaging in Children With Primary Ciliary Dyskinesia September 1, 2021 June 30, 2023
NCT03370029 Completed Respiratory Muscle Strength, Exercise Capacity and Physical Activity Levels in Children Primary Ciliary Dyskinesia October 2016 June 30, 2018
NCT03494894 Completed Bacteriological Link Between Upper and Lower Airways in Cystic Fibrosis and Primary Ciliary Dyskinesia June 1, 2017 February 19, 2019
NCT00323167 Completed Rare Genetic Disorders of the Breathing Airways May 2006 October 2012
NCT00368446 Completed Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease October 17, 2006
NCT00450918 Completed Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents August 2006 August 2019
NCT04793724 Completed N/A Respiratory Physiotherapy Performed by Simeox In Patients With Primary Ciliary Dyskinesia July 15, 2019 February 28, 2023
NCT02704455 Not yet recruiting Registry Study on Primary Ciliary Dyskinesia in Chinese Children May 2016 July 2030
NCT06172374 Recruiting A Study Providing Genetic Testing to Find Those Who May Have Primary Ciliary Dyskinesia for Potential Clinical Trials August 31, 2023 December 2025
NCT03517865 Recruiting International Primary Ciliary Dyskinesia Cohort January 2013 December 2030
NCT03606200 Recruiting Swiss Primary Ciliary Dyskinesia Registry January 2013 December 2050
NCT03704207 Recruiting N/A Utility of PCD Diagnostics to Improve Clinical Care June 1, 2017 June 1, 2025
NCT04702243 Recruiting Defining the Genetic Etiology of Suppurative Lung Disease in Children and Adults December 1, 2020 July 31, 2024
NCT04901715 Recruiting Early Phase 1 Functional Studies of Novel Genes Mutated in Primary Ciliary Dyskinesia II: Genotype to Phenotype June 10, 2021 April 30, 2024
NCT04919018 Recruiting Characterizing the Upper Airway Manifestations in Primary Ciliary Dyskinesia and Primary Immunodeficiencies June 9, 2021 July 31, 2024
NCT05161858 Recruiting Longitudinal Characterization of Respiratory Tract Exacerbations and Treatment Responses in Primary Ciliary Dyskinesia March 29, 2022 July 31, 2024
NCT05287022 Recruiting Use of Nasal Nitric Oxide Testing in Improving Primary Ciliary Dyskinesia Clinical Care June 14, 2021 June 2025
NCT05374720 Recruiting N/A Analysis of the Molecular Composition of Tubal Cilia in Patients With or Without Ectopic Pregnancy October 1, 2022 December 31, 2024
NCT05685186 Recruiting A Longitudinal, Observational Study of Primary Ciliary Dyskinesia in Adults March 8, 2023 May 20, 2027
NCT05737485 Recruiting Phase 1 Study Evaluating the Safety and Tolerability of RCT1100 in Healthy and PCD Subjects February 18, 2023 December 21, 2024
NCT05889013 Recruiting Utility of PCD Diagnostics to Improve Clinical Care September 27, 2023 June 2024
NCT05932316 Recruiting N/A Evaluating Bronchodilator Response in Patients With Bronchiectasis May 20, 2023 December 2024
NCT05951478 Recruiting DCP (RaDiCo Cohort) (RaDiCo-DCP) May 2, 2017 December 31, 2028
NCT04489472 Recruiting N/A The Effect of a Dietary Supplement Rich in Nitric Oxide in Patients Diagnosed With Primary Ciliary Dyskinesia. July 31, 2019 May 1, 2024
NCT04602481 Recruiting COVID-19 in People With Primary Ciliary Dyskinesia May 31, 2020 May 31, 2030
NCT04611516 Recruiting The Ear-Nose-Throat (ENT) Prospective International Cohort of PCD Patients (EPIC-PCD) March 2, 2020 December 2030
NCT03809091 Unknown status WGS of Korean Idiopathic Bronchiectasis January 2019 December 2021
NCT04949308 Unknown status Nasal Nitric Oxide Across Mutations in Primary Ciliary Dyskinesia January 1, 2021 December 31, 2022
NCT02699177 Unknown status In Vivo Measurements of Nasal Ciliary Beat Frequency by Using Interferometry April 2016 July 2019
NCT01929356 Unknown status N/A Chest Physiotherapy and Lung Function in Primary Ciliary Dyskinesia June 30, 2020 November 2021
NCT00739817 Unknown status Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide July 2010
NCT04717115 Unknown status Genotype/Phenotype Correlation With Focus on Lung Function in Primary Ciliary Dyskinesia (PCD) November 1, 2019 November 30, 2023
NCT03704896 Unknown status PRospective Observational Multicentre Study on VAriability of Lung Function in Stable PCD Patients August 23, 2017 December 31, 2019
NCT03320382 Unknown status Multiple Breath Washout, a Clinimetric Dataset May 5, 2017 March 2024
NCT03279965 Unknown status MRI in Cystic Fibrosis and Primary Ciliary Dyskinesia May 5, 2017 May 5, 2018
NCT01070914 Unknown status Early Detection and Characterization of Primary Ciliary Dyskinesia June 2011 June 2013
NCT00686309 Unknown status Comparison of On-line and Off-line Measurements of Exhaled Nitric Oxide (NO) July 2010 July 2011
Disase is a (Disease Ontology)
DOID:0060340
Cross Reference ID (Disease Ontology)
GARD:4484
Cross Reference ID (Disease Ontology)
MESH:D002925
Cross Reference ID (Disease Ontology)
MIM:PS244400
Cross Reference ID (Disease Ontology)
NCI:C84638
Cross Reference ID (Disease Ontology)
ORDO:244
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:86204009
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0008780
Exact Synonym (Disease Ontology)
ciliary motility disorder
Exact Synonym (Disease Ontology)
immotile ciliary syndrome
OMIM Phenotype Series Number (OMIM)
PS244400
OrphaNumber from OrphaNet (Orphanet)
244