Registry Study on Primary Ciliary Dyskinesia in Chinese Children

NCT ID: NCT02704455

Last Updated: 2016-03-10

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

NOT_YET_RECRUITING

Total Enrollment

100 participants

Study Classification

OBSERVATIONAL

Study Start Date

2016-05-31

Study Completion Date

2030-07-31

Brief Summary

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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

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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.

Conditions

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Primary Ciliary Dyskinesia

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

* 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

* 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.
Maximum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Shengjing Hospital

OTHER

Sponsor Role collaborator

Capital Institute of Pediatrics, China

OTHER

Sponsor Role collaborator

Shanghai Children's Medical Center

OTHER

Sponsor Role collaborator

Shenzhen Children's Hospital

OTHER_GOV

Sponsor Role collaborator

The First Affiliated Hospital of Xiamen University

OTHER

Sponsor Role collaborator

First Affiliated Hospital of Guangxi Medical University

OTHER

Sponsor Role collaborator

Beijing Children's Hospital

OTHER

Sponsor Role lead

Responsible Party

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Baoping XU

Chief of Respiratory Department

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Kunling Shen, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Beijing Children's Hospital of Capital Medical University, China;China National Clinical Research Center for Respiratory Diseases

Baoping Xu, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Beijing Children's Hospital of Capital Medical University, China;China National Clinical Research Center for Respiratory Diseases

Central Contacts

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Baoping Xu, MD, PhD

Role: CONTACT

861059616308

References

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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.

Reference Type BACKGROUND
PMID: 25580864 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 22232363 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 26418604 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 14656747 (View on PubMed)

Other Identifiers

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BCHlung005

Identifier Type: -

Identifier Source: org_study_id

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