Monogenic Diseases
Conditions
Keywords
Diseases, Children, Respiratory, Monogenic diseases, China
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.
Interventions
None listed
Sponsors
Capital Institute of Pediatrics, China
Shengjing Hospital
Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
The Children's Hospital of Zhejiang University School of Medicine
Children's Hospital of Chongqing Medical University
The first clinical college of Guangzhou medical university
Guangzhou Women and Children's Medical Center
Yuying Children's Hospital of Wenzhou Medical University
Kunling Shen
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
1 Months to 18 Years
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change from baseline in lung function on the spirometry | 1 year later | forced expiratory volume at one second (FEV1) in Liter |
Countries
China
Contacts
Primary ContactKunling Shen, MD,PhD
Backup ContactBaoping Xu, MD,PhD
Outcome results
None listed