Clinical trial NCT02704455: Registry Study on Primary Ciliary Dyskinesia in Chinese Children
Official title: Registry Study on Primary Ciliary Dyskinesia in Chinese children-a Multicenter, Prospective Cohort Study
Study type: OBSERVATIONAL
Overall status: NOT_YET_RECRUITING
Conditions: Primary Ciliary Dyskinesia
Keywords: children
Lead sponsor: Beijing Children's Hospital
Sponsor class: OTHER
Collaborators: name: Shengjing Hospital
name: Capital Institute of Pediatrics, China
name: Shanghai Children's Medical Center
name: Shenzhen Children's Hospital
name: The First Affiliated Hospital of Xiamen University
name: First Affiliated Hospital of Guangxi Medical University
First posted: 2016-03-10
Enrollment: 100
Sex: ALL
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Children who was confirmed diagnosis as primary ciliary dyskinesia at the certain hospitals (sponsor and collaborators)

Brief summary: This study is a multicenter, prospective cohort study of patients diagnosed with primary ciliary dyskinesia, the clinical information of recruited patients, including clinical manifestations, lung function, chest imaging, quality of life and other indicators, will be followed for 10 years.

Detailed description: All new cases of primary ciliary dyskinesia which was confirmed or diagnosed at each center from the beginning of the study are made the investigation of the clinical manifestations and specific tests by the standard diagnostic process.Then all the patients' following clinical data will be followed for 10 years (once per six month): clinical manifestations, lung function, chest imaging (once per year), quality of life and other indicators.

Eligibility criteria: Inclusion Criteria: A included patient must be coincident with all the following items:

* Age 0\~18 years old
* Any organ system symptoms consistent with PCD and being conform to the clinical diagnostic standard of Katergener syndrome or being coincident with at least two following specific tests:
* Abnormal ciliary beat frequency or movement by the high speed photography microscope
* Abnormal ciliary structure through the electronic microscopy
* The nasal NO decreased significantly
* The target gene mutation found
* The clinical diagnostic criteria of the Katergener syndrome: ① bronchial expansion; ② sinusitis or nasal polyps; ③ transposition of viscera and (or) dextrocardia.
* If all the typical clinical manifestations but only 1 specific test with positive results, can also be included in the registration of suspected PCD cases
* Consent to provide the related clinical specimen to the certain hospital
* The guardians of the patients fully understand the purpose of the study, volunteer their children to participate in this study, and sign informed consent.

Exclusion Criteria: Subject will be excluded if she or he has one of the following:

* It is unable to provide complete medical records or the current condition can not accept the diagnosis process
* She or he cannot agree to participate in the study.

Primary outcomes:
measure: Change from baseline in lung function on the spirometry
timeFrame: 10 years
Secondary outcomes:
Other outcomes:
Locations:
Study officials:
affiliation: Beijing Children's Hospital of Capital Medical University, China;China National Clinical Research Center for Respiratory Diseases
name: Kunling Shen, MD, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Beijing Children's Hospital of Capital Medical University, China;China National Clinical Research Center for Respiratory Diseases
name: Baoping Xu, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Liu Y, Wang L, Tian X, Xu KF, Xu W, Li X, Yue C, Zhang P, Xiao Y, Zhang X. Characterization of gene mutations and phenotypes of cystic fibrosis in Chinese patients. Respirology. 2015 Feb;20(2):312-8. doi: 10.1111/resp.12452. Epub 2015 Jan 8.
citation: Hogg C, Bush A. Genotyping in primary ciliary dyskinesia: ready for prime time, or a fringe benefit? Thorax. 2012 May;67(5):377-8. doi: 10.1136/thoraxjnl-2011-201320. Epub 2012 Jan 9. No abstract available.
citation: Shapiro AJ, Zariwala MA, Ferkol T, Davis SD, Sagel SD, Dell SD, Rosenfeld M, Olivier KN, Milla C, Daniel SJ, Kimple AJ, Manion M, Knowles MR, Leigh MW; Genetic Disorders of Mucociliary Clearance Consortium. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. Pediatr Pulmonol. 2016 Feb;51(2):115-32. doi: 10.1002/ppul.23304. Epub 2015 Sep 29.
citation: Noone PG, Leigh MW, Sannuti A, Minnix SL, Carson JL, Hazucha M, Zariwala MA, Knowles MR. Primary ciliary dyskinesia: diagnostic and phenotypic features. Am J Respir Crit Care Med. 2004 Feb 15;169(4):459-67. doi: 10.1164/rccm.200303-365OC. Epub 2003 Dec 4.