Registry Study on Respiratory Monogenic Diseases in Chinese Children

Recruiting

• Conditions: Monogenic Diseases

• Registration Number: NCT03528525
• Lead Sponsor: Kunling Shen

Brief Summary

This study is a multicenter, prospective cohort study of patients diagnosed with respiratory monogenic diseases, the clinical information of recruited patients, including clinical manifestations, lung function, chest imaging, quality of life and other indicators, will be followed for 5 years.

Detailed Description

All new cases of respiratory monogenic diseases was confirmed or diagnosed at each center from the beginning of the study are made the investigation of the clinical manifestations and specific tests by the standard diagnostic process.Then all the patients' following clinical data will be followed for 5 years: clinical manifestations, lung function, chest imaging (once per year), gene test, quality of life and other indicators.

Study Timeline

• Study Start: 2017-01-01
• Primary Completion: 2018-01-01
• Status Verified: 2018-05
• Study First Submitted: 2018-05-06
• Study First Submitted QC: 2018-05-06
• Last Update Submitted: 2018-05-06
• Study First Posted: 2018-05-18
• Last Update Posted: 2018-05-18
• Study Completion: 2030-12-30

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 200

Inclusion Criteria

1. Age: 0-18 years, male and female.
2. Any organ system symptoms consistent with the diagnostic points of respiratory monogenic diseases.
3. Agree to retain specimens related to disease research and agree to store the specimens in the sample bank.
4. willing and able to cooperate with long-term follow-up.
5. The guardian of the child has a full understanding of the purpose of the study, a basic understanding of the clinical research program, and voluntarily allows the child to participate in the study and sign an informed consent form.

Exclusion Criteria

1. It is unable to provide complete medical records or the current condition can not accept the diagnosis process
2. She or he cannot agree to participate in the study.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Change from baseline in lung function on the spirometry	1 year later	forced expiratory volume at one second (FEV1) in Liter

Trial Locations

Locations (1)

Beijing Children's hospital; 🇨🇳 Beijing, Beijing, China