Primary ciliary dyskinesia 1

This study aims to find the genes that keep airways healthy and understand how genetic mutations cause primary ciliary dyskinesia (PCD), a rare disease that leads to serious lung problems. Researchers will study people with suspected PCD and healthy family members. The goal is to…

This study reviews medical records of 500 Polynesian patients with bronchiectasis (widened airways) to understand why the condition is so common in French Polynesia. Researchers will look at age of onset, family history, infections, and CT scan patterns to see if a genetic cause …

This study aims to see if analyzing the chemicals in a child's breath can help diagnose and monitor diseases like asthma, neurological disorders, and type 1 diabetes. Researchers will collect breath samples from up to 3,600 children and teens to find patterns linked to these cond…

This study follows 1000 people with Primary Ciliary Dyskinesia (PCD) across multiple countries to track ear, nose, and throat symptoms over two years. Participants continue their usual care while researchers collect data through exams and questionnaires. The goal is to better und…

This study is creating a national registry in Switzerland for people with primary ciliary dyskinesia (PCD), a rare lung condition. Researchers will collect information on symptoms, lung function, and treatments from up to 800 patients. The goal is to better understand the disease…

This study looks at the genetic causes of nephronophthisis, a rare kidney disease that leads to kidney failure before age 20. Researchers will collect urine and blood samples from 310 patients and healthy relatives to study cells and identify potential drug targets. The goal is t…