Genetic Association With Various Severities, Phenotypes and Endotypes of Asthma.

NCT ID: NCT06196034

Last Updated: 2024-08-21

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 2000 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2024-03-01
• Study Completion Date: 2029-01-04

Brief Summary

There is limited information on genetics associated with asthma in Chinese. An earlier meta-analysis found that ADAM33, FcεRIb, RANTES, TNF-a, ACE, b2-AR, IL-4R and IL-13 genes could be proposed as asthma susceptible genes in the Chinese population. However, given the limited number of studies, more data are required to validate these associations.

Future research must address key issues such as the broad clinical variability of asthma and the underrepresentation of populations of non-European heritage. Endotype-specific SNPs and unique biological insights may be obtained by conducting GWAS/EWAS on homogeneous populations of more therapy-resistant T2-low, adult-onset, obesity-associated asthma or asthma with particular co-morbidities.

The primary objective is to investigate the association between genetic polymorphisms and various severities of asthma.

Detailed Description

Currently, many studies on asthma genetics are limited by the dominance of populations of European descent. In addition, there are few genetic studies that focus on moderate-to-severe asthma.

There is limited information on genetics associated with asthma in Chinese. An earlier meta-analysis found that ADAM33, FcεRIb, RANTES, TNF-a, ACE, b2-AR, IL-4R and IL-13 genes could be proposed as asthma susceptible genes in the Chinese population. However, given the limited number of studies, more data are required to validate these associations.

Future research must address key issues such as the broad clinical variability of asthma and the underrepresentation of populations of non-European heritage. Endotype-specific SNPs and unique biological insights may be obtained by conducting GWAS/EWAS on homogeneous populations of more therapy-resistant T2-low, adult-onset, obesity-associated asthma or asthma with particular co-morbidities.

Objectives Primary objective To investigate the association between genetic polymorphisms and various severities of asthma (e.g. mild, moderate, severe).

Secondary objectives

1. Identify the most common genetic variants associated with asthma in Chinese patients.

2. Determine the frequency and distribution of these genetic variants in Chinese patients compared to healthy controls.

3. Explore the potential interactions between genetic and environmental factors in the development of asthma in Chinese patients.

4. Explore the frequency and distribution of these genetic variants in patients with various phenotypes and endotypes (examples: including TH2 high asthma, Asthma COPD overlap, poor lung function, onset of illness)

This is a prospective observational study in outpatients with asthma seen and treated by physicians in the Prince of Wales Hospital. A total of 1000 asthma patients will be enrolled, along with 1000 controls matched for age, sex, and ethnicity. All participants will provide blood samples for genetic analysis, and clinical data will be collected from medical records and patient interviews. Genetic variants will be genotyped using high-throughput sequencing methods.

Conditions

Asthma

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: PROSPECTIVE

Study Groups

Asthma

Subjects with asthma

No intervention

Intervention Type: GENETIC

No intervention

Control

Subjects with no asthma

No intervention

Intervention Type: GENETIC

No intervention

Interventions

No intervention

No intervention

Intervention Type: GENETIC

Eligibility Criteria

Inclusion Criteria

• • All patients with confirmed diagnosis of asthma (defined as those with a consistent history and prior documented evidence of variable airflow obstruction, with evidence of an increase in FEV1 greater than 12% or 400 mL following bronchodilator or bronchial hyperresponsiveness on bronchial provocation testing, when stable) 12

• Able to sign written informed consent form to participate in the study.

Exclusion Criteria

• • Patients currently with acute exacerbation of asthma by GINA guideline. (For subjects with asthma exacerbation, they can join the study after 6 weeks post recovery from the exacerbation.)

• Patients with respiratory diseases that can show similar symptoms to chronic airway diseases such as bronchiectasis, tuberculosis(TB)-destroyed lung parenchyma, endobronchial TB, and lung cancer, or those who have history of these diseases based on physician's judgment.
• Patients currently diagnosed with pneumonia and acute bronchitis.

For control subject: the inclusion will be having no clinical diagnosis of asthma.

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 100 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Chinese University of Hong Kong

OTHER

Sponsor Role: lead

Responsible Party

Fanny W.S. Ko

Dr

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

David SC Hui

Role: STUDY_DIRECTOR

Chinese University of Hong Kong

Locations

The Chinese University of Hong Kong

Hong Kong, New Territories, Hong Kong

Site Status: RECRUITING

The Chinese University of Hong Kong

Hong Kong, , Hong Kong

Site Status: RECRUITING

Countries

Hong Kong

Central Contacts

David SC Hui, MD

Role: CONTACT

dschui@cuhk.edu.hk

35053133

Facility Contacts

David S Hui, MD

Role: primary

dschui@cuhk.edu.hk

35053133

fanny WS Ko, MD

Role: backup

fannyko@cuhk.edu.hk

35053133

Fanny Ko, MD

Role: primary

fannyko@cuhk.edu.hk

David Hui, MD

Role: backup

dschui@cuhk.edu.hk

Other Identifiers

Asthma Genetics_V2_08Aug2023

Identifier Type: -

Identifier Source: org_study_id