Clinical trial NCT05604495: Screening for Cystic Fibrosis and Cystic Fibrosis Related Disorders in Chinese Adults With Bronchiectasis
Official title: The Clinical and Genetic Characteristics of Cystic Fibrosis and Cystic Fibrosis Disorders in Chinese Adults With Bronchiectasis
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Cystic Fibrosis, Pulmonary
Lead sponsor: Shanghai Pulmonary Hospital, Shanghai, China
Sponsor class: OTHER
First posted: 2022-11-03
Enrollment: 1000
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
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.

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.

Eligibility 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.

Primary outcomes:
measure: Sweat chloride and conductivity
timeFrame: within 14 days after sweat collection
Secondary outcomes:
measure: CFTR-mutation screening
timeFrame: 1 year
Other outcomes:
measure: Prevelance of CF or CFTR dysfunction
timeFrame: 1 year
measure: Microbiology
timeFrame: through study completion, an average of 1 year
measure: Bronchiectasis severity Score (BSI)
timeFrame: At baseline and updated once a year for 3 years
measure: Lung function (FEV1 %, FVC %, FEV1/FVC %)
timeFrame: 1 year
measure: E-FACED score
timeFrame: At baseline and updated once a year for 3 years
measure: Comorbidity
timeFrame: At baseline and updated every year for up to 3 years
Locations:
city: Shanghai
country: China
facility: Shanghai pulmonary hospital
state: Shanghai
Study officials:
affiliation: Shanghai Pulmonary Hospital, Shanghai, China
name: Jin-fu Xu, MD
role: STUDY_CHAIR
References: