Registry Study on Primary Ciliary Dyskinesia in Chinese Children

Launched by BEIJING CHILDREN'S HOSPITAL · Mar 5, 2016

Keywords

ClinConnect Summary

This clinical trial is designed to study Primary Ciliary Dyskinesia (PCD) in children in China. PCD is a condition that affects the tiny hair-like structures in our bodies called cilia, which help keep our airways clear and our lungs healthy. The researchers will follow children diagnosed with PCD for 10 years to collect information about their symptoms, lung health, and overall quality of life, as well as other important health indicators.

To be eligible for the study, children need to be between the ages of 0 and 18 and must show symptoms that match the criteria for PCD, such as issues with their lungs or sinuses. They also need to meet specific medical tests that confirm the diagnosis, like having abnormal results from certain imaging tests or genetic testing. Parents or guardians will need to give their consent for their child to participate and provide clinical samples for the study. This research aims to improve understanding and treatment of PCD, helping to enhance the lives of those affected by this condition.

Gender

ALL

Eligibility criteria

• Inclusion Criteria: A included patient must be coincident with all the following items:
• • Age 0\~18 years old
• * Any organ system symptoms consistent with PCD and being conform to the clinical diagnostic standard of Katergener syndrome or being coincident with at least two following specific tests:
• • Abnormal ciliary beat frequency or movement by the high speed photography microscope
• • Abnormal ciliary structure through the electronic microscopy
• • The nasal NO decreased significantly
• • The target gene mutation found
• • The clinical diagnostic criteria of the Katergener syndrome: ① bronchial expansion; ② sinusitis or nasal polyps; ③ transposition of viscera and (or) dextrocardia.
• • If all the typical clinical manifestations but only 1 specific test with positive results, can also be included in the registration of suspected PCD cases
• • Consent to provide the related clinical specimen to the certain hospital
• • The guardians of the patients fully understand the purpose of the study, volunteer their children to participate in this study, and sign informed consent.
• Exclusion Criteria: Subject will be excluded if she or he has one of the following:
• • It is unable to provide complete medical records or the current condition can not accept the diagnosis process
• • She or he cannot agree to participate in the study.