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Screening for Cystic Fibrosis and Cystic Fibrosis Related Disorders in Chinese Adults With Bronchiectasis

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT05604495
Recruitment Status : Recruiting
First Posted : November 3, 2022
Last Update Posted : November 3, 2022
Sponsor:
Information provided by (Responsible Party):
Jin-Fu Xu, Shanghai Pulmonary Hospital, Shanghai, China

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.

Condition or disease Intervention/treatment
Cystic Fibrosis, Pulmonary Diagnostic Test: Sweat Test

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.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 1000 participants
Observational Model: Case-Only
Time Perspective: Prospective
Target Follow-Up Duration: 5 Years
Official Title: The Clinical and Genetic Characteristics of Cystic Fibrosis and Cystic Fibrosis Disorders in Chinese Adults With Bronchiectasis
Actual Study Start Date : September 7, 2022
Estimated Primary Completion Date : December 31, 2024
Estimated Study Completion Date : December 31, 2024

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Cystic Fibrosis

Group/Cohort Intervention/treatment
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.
Diagnostic Test: Sweat 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.




Primary Outcome Measures :
  1. Sweat chloride and conductivity [ Time Frame: 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 Outcome Measures :
  1. CFTR-mutation screening [ Time Frame: 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 Outcome Measures:
  1. Prevelance of CF or CFTR dysfunction [ Time Frame: 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.

  2. Microbiology [ Time Frame: through study completion, an average of 1 year ]
    Sputum or bronchoalveolar lavage fluid culture

  3. Bronchiectasis severity Score (BSI) [ Time Frame: 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.


  4. Lung function (FEV1 %, FVC %, FEV1/FVC %) [ Time Frame: 1 year ]
    Lung function would be tested by spirometry when patients visit the clinic.

  5. E-FACED score [ Time Frame: 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

  6. Comorbidity [ Time Frame: At baseline and updated every year for up to 3 years ]
    Comorbidity would be recorded.


Biospecimen Retention:   Samples With DNA
Genomic DNA extracted from peripheral whole blood.


Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
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.
Criteria

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 Exclusion Criteria:

  • Patients with an implanted device, such as a defibrillator, neurostimulator, pacemaker, or ECG monitor.
  • Patients with a history of epilepsy or seizures.
  • Patients who are pregnant.
  • Patients that have a known sensitivity or allergy to any ingredient.
  • Over-damaged, denuded skin or other recent scar tissue.
  • Patients with Cardiac Conditions or with suspected heart problems.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05604495


Contacts
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Contact: Jin-fu Xu, MD +86 13321922898 jfxucn@163.com

Locations
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China, Shanghai
Shanghai pulmonary hospital Recruiting
Shanghai, Shanghai, China, 200433
Contact: Jin-fu Xu, MD    +8613321922898    jfxucn@163.com   
Sponsors and Collaborators
Shanghai Pulmonary Hospital, Shanghai, China
Investigators
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Study Chair: Jin-fu Xu, MD Shanghai Pulmonary Hospital, Shanghai, China
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Responsible Party: Jin-Fu Xu, Director, Head of respiratory medicine, Shanghai Pulmonary Hospital, Shanghai, China
ClinicalTrials.gov Identifier: NCT05604495    
Other Study ID Numbers: 20220922
First Posted: November 3, 2022    Key Record Dates
Last Update Posted: November 3, 2022
Last Verified: October 2022

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Cystic Fibrosis
Bronchiectasis
Pulmonary Fibrosis
Fibrosis
Pathologic Processes
Pancreatic Diseases
Digestive System Diseases
Lung Diseases
Respiratory Tract Diseases
Genetic Diseases, Inborn
Infant, Newborn, Diseases
Bronchial Diseases