Cystic Fibrosis, Pulmonary
Conditions
Brief summary
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.
Detailed description
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.
Interventions
DIAGNOSTIC_TESTSweat 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.
Sponsors
Shanghai Pulmonary Hospital, Shanghai, China
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Age\>18 years, the diagnosis of bronchiectasis needs a reference to the definition of non-cystic fibrosis bronchiectasis guideline published by the British Thoracic Society in 2017 or 2021 China bronchiectasis expert consensus, clinical symptoms of cough and expectoration, with or without intermittent hemoptysis, and chest CT showed bronchiectasis * Patients who are willing to sign the consent form and participate in the study.
Exclusion criteria
* Patients with incomplete essential information, which is needed for the integrity of data analysis. Essential information includes CT images, respiratory sample cultures, spirometry, and exacerbation history for at least one year. * Patients under 18 years old. Sweat Test
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Sweat chloride and conductivity | within 14 days after sweat collection | 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 |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| CFTR-mutation screening | 1 year | 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. |
Other
| Measure | Time frame | Description |
|---|---|---|
| Prevelance of CF or CFTR dysfunction | 1 year | 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. |
| Microbiology | through study completion, an average of 1 year | Sputum or bronchoalveolar lavage fluid culture |
| E-FACED score | At baseline and updated once a year for 3 years | 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 |
| Lung function (FEV1 %, FVC %, FEV1/FVC %) | 1 year | Lung function would be tested by spirometry when patients visit the clinic. |
| Bronchiectasis severity Score (BSI) | At baseline and updated once a year for 3 years | 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. |
| Comorbidity | At baseline and updated every year for up to 3 years | Comorbidity would be recorded. |
Countries
China
Contacts
Primary ContactJin-fu Xu, MD
Outcome results
None listed