Ciliopathy

This study looks at how well setmelanotide works in real-world settings for people with Bardet-Biedl syndrome, a rare genetic condition that causes severe obesity and constant hunger. Researchers will track changes in body mass index, cholesterol, liver fat, and quality of life i…

This phase 3 trial tests an experimental drug called sepofarsen in 32 people with Leber congenital amaurosis (LCA), a rare genetic condition that causes severe vision loss from birth. The drug is injected into one eye, while the other eye gets a placebo, to see if it safely impro…

This trial tests whether using two defibrillators in sequence, instead of the standard single defibrillator, can improve survival in people whose hearts are in a shockable rhythm but don't respond to the first shock. About 916 adults with out-of-hospital cardiac arrest will be ra…

This study tests whether a smartphone app (AWARE) can accurately detect and monitor lung diseases like asthma, COPD, and cystic fibrosis by analyzing sound waves from the phone's speaker and microphone. Researchers will enroll 800 people aged 8-70, including healthy volunteers an…

This study looks at a new, non-invasive test called nasal nitric oxide (nNO) testing to help diagnose primary ciliary dyskinesia (PCD), a rare lung condition. Researchers will collect data from 50 children and adults who have symptoms like chronic cough or nasal congestion. The g…

This study tests whether taking glycine and magnesium+thiamine supplements for 6 months can reduce lung infections and improve breathing in people with primary ciliary dyskinesia (PCD), a rare lung condition. About 60 participants aged 5 and older will receive either one or both …

This study follows 900 people with bronchiectasis—a condition where airways are damaged and prone to infection—to learn why they get sick repeatedly. Researchers will collect medical history, lung function tests, and blood, urine, and sputum samples from patients and their family…

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 is creating a central database and tissue bank for rare diseases affecting the kidneys and liver, such as ARPKD and Joubert syndrome. Researchers will collect medical information, genetic samples, and tissues from 200 participants to help doctors and scientists better …

This registry collects information from people with inherited retinal diseases, like retinitis pigmentosa and Stargardt disease. Participants share their symptoms, family history, and genetic test results online. The goal is to help researchers understand these rare diseases and …

This study is gathering detailed information from 470 adults with chronic inflammatory lung diseases like asthma, COPD, and cystic fibrosis, as well as healthy volunteers. Researchers will analyze clinical, biological, and lifestyle factors to identify distinct disease subtypes. …

This study is gathering health and genetic information from 300 people with Primary Ciliary Dyskinesia (PCD), a rare inherited lung condition. Researchers want to identify factors that make the disease more severe, find new genes linked to PCD, and measure how the disease affects…

This study involves interviews with 30 adults in the UK who have primary ciliary dyskinesia (PCD), a rare condition affecting the lungs and other organs. Researchers want to learn about their personal experiences with fertility, pregnancy, and parenthood. The goal is to better un…

This study aims to find out if children with primary ciliary dyskinesia (PCD) also have a condition called bronchial hyperresponsiveness, which makes airways overly sensitive. Researchers will compare 40 participants (those with PCD and healthy volunteers) using breathing tests. …

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 tracks people with primary ciliary dyskinesia (PCD) worldwide to understand their symptoms, treatments, and daily life. Participants fill out questionnaires when they join and once a year after that. The goal is to gather real-world data to improve health and quality o…

This study aims to better understand bronchiectasis, a chronic lung disease, in Chinese patients. Researchers will collect data from 1500 adults to identify different disease types and their underlying causes. The goal is to improve diagnosis and tailor treatments for each patien…

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…