Registry Study on Primary Ciliary Dyskinesia in Chinese Children

NCT02704455 | Not Yet Recruiting DMC

• 1 other identifier: BCHlung005
• Study Type: observational
• Target: 100
• Locations: 0 countries
• Sites: N/A

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.

Conditions

Primary Ciliary Dyskinesia

Keywords

children

Outcome Measures

Primary Outcomes (1)

• Change from baseline in lung function on the spirometry

  forced expiratory volume at one second (FEV1) in Liter

  10 years

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Beijing Children's Hospital: lead
• Shengjing Hospital: collaborator
• Capital Institute of Pediatrics, China: collaborator
• Shanghai Children's Medical Center: collaborator
• Shenzhen Children's Hospital: collaborator
• The First Affiliated Hospital of Xiamen University: collaborator
• First Affiliated Hospital of Guangxi Medical University: collaborator

Related Publications (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.

  PMID: 25580864 BACKGROUND

• 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.

  PMID: 22232363 BACKGROUND

• 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.

  PMID: 26418604 BACKGROUND

• 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.

  PMID: 14656747 BACKGROUND

MeSH Terms

Conditions

Ciliary Motility Disorders

Condition Hierarchy (Ancestors)

Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Ciliopathies; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Officials

• 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

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Baoping Xu, MD, PhD

CONTACT

861059616308; xubaopingbch@163.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Chief of Respiratory Department

Study Record Dates

• First Submitted: March 3, 2016
• First Posted: March 10, 2016
• Study Start: May 1, 2016
• Primary Completion (Estimated): May 1, 2030
• Study Completion (Estimated): July 1, 2030
• Last Updated: March 10, 2016

Record last verified: 2016-03

Data Sharing

• IPD Sharing: Will share