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The study carries out Sweet Tests and CFTR-mutation screening to explore the prevalence, clinical characteristics, and prognosis of cystic fibrosis, as well as the CFTR-mutation spectrum in Chinese adults with bronchiectasis. The study is multi-centered, prospective, non-interventional, and observational.
The incidence of cystic fibrosis (CF) or CFTR dysfunction in China remains unclear due to the absence of a diagnosis and different genetic backgrounds. However, the CF case rate in western countries is relatively high, up to 1/2500. According to the limited statistics, the most common classic clinical symptom of Chinese CF patients is bronchiectasis. Other symptoms often seen in diseased western groups, such as pancreatic insufficiency, are rarely seen in Chinese patients. Thus, Chinese CF or CFTR dysfunction patients easily misdiagnose bronchiectasis, Chronic pneumonia, asthma, etc. Sweet test and CFTR-mutation screening are urgently needed for diagnosing and treating CF or CFTR dysfunction patients in Chinese adults with bronchiectasis. The study will focus on the change in CFTR function, genetic susceptibility factors, and disease progression to explore the incidence, clinical characteristics, and prognosis of cystic fibrosis, as well as the CFTR mutation spectrum in Chinese adults with bronchiectasis.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Adult patients with bronchiectasis (unknown cause) | Diagnosis of bronchiectasis was performed using chest HRCT scans in suspected patients with coughing and expectoration, or long durations of hemoptysis. High-resolution images were obtained during full inspiration at 1-mm collimation and 10-mm intervals from the apex to the base of the lungs. The presence of bronchiectasis was confirmed based on the following criteria: 1) lack of tapering in the bronchi; 2) dilation of the bronchi where the internal diameter was larger than that of the adjacent pulmonary artery; or 3) visualization of the peripheral bronchi within 1 cm of the costal pleural surface or the adjacent mediastinal pleural surface. |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Sweat Test | Diagnostic Test | In people with cystic fibrosis (CF), there is a problem in the transport of chloride across cell membranes. This results in higher concentrations of chloride (as salt) in sweat compared to those who do not have cystic fibrosis. So, if there is a family history or a possibility of CF, the sweat test is part of the special tests to help make, or exclude, a diagnosis of cystic fibrosis. |
| Measure | Description | Time Frame |
|---|---|---|
| Sweat chloride and conductivity | Sweat chloride and conductivity is the measured analyte most directly related to the abnormal function of the cystic fibrosis transmembrane regulator (CFTR), the chloride channel that is defective in cystic fibrosis patients | within 14 days after sweat collection |
| Measure | Description | Time Frame |
|---|---|---|
| CFTR-mutation screening | CFTR-mutation screening will be carried out in Patients with abnormal results of Sweat Test. Mutation detection analysis will be performed in Next Generation Sequencing method using the genomic DNA extracted from peripheral whole blood. | 1 year |
| Measure | Description | Time Frame |
|---|---|---|
| Prevelance of CF or CFTR dysfunction | The CF and CFTR dysfunction diagnosis is according to the results of sweat tests combined with CFTR sequencing results. CF is defined as a chloride concentration above 59 mmol/L combined with more than one CFTR mutation, while CFTR dysfunction is defined as a chloride concentration between 30-59mmol/L combined with one or two CFTR mutations. | 1 year |
Inclusion Criteria:
Exclusion Criteria:
Sweat Test Exclusion Criteria:
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Patient recruitment relies on the China Bronchiectasis Registry and Research Collaboration. The final study population will be dynamically adjusted according to the incidence of CF in Chinese adults with bronchiectasis, which will be concluded by the primary study conducted on 200 bronchiectasis patients. 1000 bronchiectasis patients are temporarily decided to be enrolled.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Jin-fu Xu, MD | Contact | +86 13321922898 | jfxucn@163.com |
| Name | Affiliation | Role |
|---|---|---|
| Jin-fu Xu, MD | Shanghai Pulmonary Hospital, Shanghai, China | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Shanghai pulmonary hospital | Recruiting | Shanghai | Shanghai Municipality | 200433 | China |
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| ID | Term |
|---|---|
| D003550 | Cystic Fibrosis |
| ID | Term |
|---|---|
| D010182 | Pancreatic Diseases |
| D004066 | Digestive System Diseases |
| D008171 | Lung Diseases |
| D012140 | Respiratory Tract Diseases |
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Genomic DNA extracted from peripheral whole blood.
|
| Microbiology | Sputum or bronchoalveolar lavage fluid culture | through study completion, an average of 1 year |
| Bronchiectasis severity Score (BSI) | The scale is presented online. It consists of 9 items including Age, BMI(Body Mass Index), % FEV1 Predicted, Previous Hospital Admission in the past 2 years, number of exacerbations in previous year, MRC Breathlessness Score, Pseudomonas Colonisation, Colonisation with other organisms,affected lobes. 0-4 Mild Bronchiectasis. 5 - 8 Moderate Bronchiectasis. 9 + Severe Bronchiectasis. | At baseline and updated once a year for 3 years |
| Lung function (FEV1 %, FVC %, FEV1/FVC %) | Lung function would be tested by spirometry when patients visit the clinic. | 1 year |
| E-FACED score | It consists of 6 items including exacerbation history in the past year, % FEV1 predicted, Age, Chronic colonization by Pseudomonas aeruginosa, n° of pulmonary lobes affected,and Dyspnea (measured by mMRC score) mild: 0-3 points, moderate: 4-6 points; and severe: 7-9 points | At baseline and updated once a year for 3 years |
| Comorbidity | Comorbidity would be recorded. | At baseline and updated every year for up to 3 years |
| D030342 |
| Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D007232 | Infant, Newborn, Diseases |