Registry Study on Primary Ciliary Dyskinesia in Chinese Children

Primary Ciliary Dyskinesia Clinical Trial

Official title:

Registry Study on Primary Ciliary Dyskinesia in Chinese children-a Multicenter, Prospective Cohort Study

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT02704455
• Other study ID #: BCHlung005
• Status: Not yet recruiting
• Phase: N/A
• First received: March 3, 2016
• Last updated: March 5, 2016
• Start date: May 2016
• Est. completion date: July 2030

Study information

• Verified date: March 2016
• Source: Beijing Children's Hospital
• Contact: Baoping Xu, MD, PhD
• Phone: 861059616308
• Email: xubaopingbch[@]163.com
• Is FDA regulated: No
• Health authority: China: Ministry of Science and TechnologyChina: Ethics Committee
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 100
• Est. completion date: July 2030
• Est. primary completion date: May 2030
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A to 18 Years

Eligibility

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: ? bronchial expansion; ? sinusitis or nasal polyps; ? 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.

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Related Conditions & MeSH terms

• Ciliary Motility Disorders
• Dyskinesias
• Kartagener Syndrome
• Primary Ciliary Dyskinesia

Locations

Country	Name	City	State
n/a

Sponsors (7)

Lead Sponsor	Collaborator
Beijing Children's Hospital	Capital Institute of Pediatrics, China, First Affiliated Hospital of Guangxi Medical University, Shanghai Children's Medical Center, Shengjing Hospital, Shenzhen Children's Hospital, The First Affiliated Hospital of Xiamen University

References & Publications (4)

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. — View 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. — View 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. Epub 2003 Dec 4. — View 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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Change from baseline in lung function on the spirometry	forced expiratory volume at one second (FEV1) in Liter	10 years	No