Registry Study on Cystic Fibrosis in Chinese Children

Registry Study on Cystic Fibrosis in Chinese Children-a Multicenter, Prospective Cohort Study

This study is a multicenter, prospective cohort study of patients diagnosed with cystic fibrosis, 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: Cystic Fibrosis

Detailed Description

All new cases of cystic fibrosis which was confirmed or probably diagnosed at each center from the beginning of the study are made the investigation of the clinical manifestations, sweat test and CFTR mutations 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, PhD; Phone Number: 861059616308; Email: xubaopingbch@163.com

Participation Criteria

Eligibility Criteria

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

• Sampling Method: Non-Probability Sample

Study Population

Children who was confirmed diagnosis as cystic fibrosis at the certain hospitals (sponsor and collaborators)

Description

Inclusion Criteria:

• Age 0~18 years old
• Any organ system symptoms consistent with CF, such as chronic sinopulmonary disease, gastrointestinal and nutritional abnormalities, obstructive azoospermia or having siblings with CF
• CFTR dysfunction indicated by elevated sweat chloride levels ≥60 mmol/L twice, or one sweat chloride levels ≥40 mmol/L plus presence of two pathogenic CFTR mutations on different alleles
• Probable CF patients with sweat chloride levels among 40~59 mmol/L plus with presence of 0-1 pathogenic CFTR mutation
• 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 does not agree to participate in the test.

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	ten 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

• Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989 Sep 8;245(4922):1073-80. doi: 10.1126/science.2570460.
• Comeau AM, Parad RB, Dorkin HL, Dovey M, Gerstle R, Haver K, Lapey A, O'Sullivan BP, Waltz DA, Zwerdling RG, Eaton RB. Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections. Pediatrics. 2004 Jun;113(6):1573-81. doi: 10.1542/peds.113.6.1573.
• Nazer HM. Early diagnosis of cystic fibrosis in Jordanian children. J Trop Pediatr. 1992 Jun;38(3):113-5. doi: 10.1093/tropej/38.3.113.
• Al-Mahroos F. Cystic fibrosis in bahrain incidence, phenotype, and outcome. J Trop Pediatr. 1998 Feb;44(1):35-9. doi: 10.1093/tropej/44.1.35.
• Yamashiro Y, Shimizu T, Oguchi S, Shioya T, Nagata S, Ohtsuka Y. The estimated incidence of cystic fibrosis in Japan. J Pediatr Gastroenterol Nutr. 1997 May;24(5):544-7. doi: 10.1097/00005176-199705000-00010.
• Brennan ML, Schrijver I. Cystic Fibrosis: A Review of Associated Phenotypes, Use of Molecular Diagnostic Approaches, Genetic Characteristics, Progress, and Dilemmas. J Mol Diagn. 2016 Jan;18(1):3-14. doi: 10.1016/j.jmoldx.2015.06.010. Epub 2015 Nov 26.

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: April 26, 2016
• First Submitted That Met QC Criteria: April 26, 2016
• First Posted (ESTIMATE): April 27, 2016

Study Record Updates

• Last Update Posted (ESTIMATE): April 28, 2016
• Last Update Submitted That Met QC Criteria: April 27, 2016
• Last Verified: April 1, 2016

More Information

Terms related to this study

• Keywords: cystic fibrosis, Chinese, children
• Additional Relevant MeSH Terms: Digestive System Diseases; Pathologic Processes; Respiratory Tract Diseases; Lung Diseases; Infant, Newborn, Diseases; Genetic Diseases, Inborn; Pancreatic Diseases; Fibrosis; Cystic Fibrosis
• Other Study ID Numbers: BCHlung004