Monogenic Diseases Clinical Trial
Official title:
Beijing Children's Hospital
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.
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. ;
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Active, not recruiting |
NCT03743948 -
NIPD of CFTC by WGA Coupled to Mini-exome Sequencing
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N/A |