Registry Study on Primary Ciliary Dyskinesia in Chinese Children

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

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.

Study Overview

• Status: Not yet recruiting
• Conditions: Primary Ciliary Dyskinesia

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.

• Study Type: Observational
• Enrollment (Anticipated): 100

Contacts and Locations

• Study Contact: Name: Baoping Xu, MD, PhD; Phone Number: 861059616308; Email: xubaopingbch@163.com

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 18 years (Child, Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Children who was confirmed diagnosis as primary ciliary dyskinesia at the certain hospitals (sponsor and collaborators)

Description

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.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change from baseline in lung function on the spirometry	forced expiratory volume at one second (FEV1) in Liter	10 years

Collaborators and Investigators

• Sponsor: Beijing Children's Hospital
• Collaborators: Shengjing Hospital; Shanghai Children's Medical Center; Shenzhen Children's Hospital; The First Affiliated Hospital of Xiamen University; First Affiliated Hospital of Guangxi Medical University; Capital Institute of Pediatrics, China
• Investigators: Principal Investigator: Kunling Shen, MD, PhD, Beijing Children's Hospital of Capital Medical University, China;China National Clinical Research Center for Respiratory Diseases; Principal Investigator: Baoping Xu, MD, PhD, Beijing Children's Hospital of Capital Medical University, China;China National Clinical Research Center for Respiratory Diseases

Publications and helpful links

General Publications

• 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.
• 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.
• 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.
• 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.

Study record dates

Study Major Dates

• Study Start: May 1, 2016
• Primary Completion (Anticipated): May 1, 2030
• Study Completion (Anticipated): July 1, 2030

Study Registration Dates

• First Submitted: March 3, 2016
• First Submitted That Met QC Criteria: March 5, 2016
• First Posted (Estimate): March 10, 2016

Study Record Updates

• Last Update Posted (Estimate): March 10, 2016
• Last Update Submitted That Met QC Criteria: March 5, 2016
• Last Verified: March 1, 2016

More Information

Terms related to this study

• Keywords: children
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Respiratory Tract Diseases; Neurologic Manifestations; Congenital Abnormalities; Genetic Diseases, Inborn; Otorhinolaryngologic Diseases; Movement Disorders; Abnormalities, Multiple; Ciliopathies; Dyskinesias; Ciliary Motility Disorders
• Other Study ID Numbers: BCHlung005

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES