Ciliopathy

This study looked at how safe and effective weekly weight loss injections (like Mounjaro) are for adults with Bardet-Biedl Syndrome (BBS), a rare genetic condition that often causes severe obesity. Researchers compared weight changes in 300 patients who took the medication versus…

This early-phase trial tested an inhaled mRNA therapy called RCT1100 in 14 adults with primary ciliary dyskinesia (PCD) caused by a specific genetic mutation (DNAI1). The goal was to see if the treatment could improve mucociliary clearance — the lungs' ability to clear mucus and …

This early-phase study tests an inhaled mRNA therapy called RCT1100 in 7 adults with primary ciliary dyskinesia caused by DNAI1 gene mutations. The goal is to see if the treatment is safe and can help restore ciliary function in the lungs. It is a small, open-label trial focused …

This completed study looked at people with genetic conditions that affect how the lungs clear mucus, such as cystic fibrosis and primary ciliary dyskinesia. Researchers examined 87 participants, including healthy volunteers, to understand why these patients get repeated lung infe…

This completed study looked at inherited disorders common in Amish and Mennonite populations. Researchers collected medical histories, blood or cheek swab samples from 157 participants to find the genes behind these conditions. They also built a computer database of family trees …

This completed study observed 31 adults with primary ciliary dyskinesia (PCD), a rare lung condition, along with healthy volunteers. Researchers measured lung function, mucus clearance, and lung structure using tests like spirometry and CT scans. The goal was to better understand…

This completed study collected blood and urine samples from 240 people with ciliopathies—rare genetic disorders that often lead to kidney failure. Researchers analyzed these samples to find biological markers that could predict how the disease will progress. The goal is to develo…

This completed study looked at 88 children with cystic fibrosis (CF) or primary ciliary dyskinesia (PCD) to compare how well they can exercise, how their muscles use oxygen, and how strong their breathing muscles are. Researchers used walking tests and muscle oxygen monitors to m…

This completed study followed 105 children and adults with primary ciliary dyskinesia (PCD), a rare lung condition, to track how their breathing and quality of life change during respiratory flare-ups. Researchers measured lung function, symptoms, and daily impacts to gather info…

This study followed 150 people with a confirmed genetic form of nephronophthisis, a rare kidney disease, to see how it progresses over the long term. Researchers tracked both kidney function and damage to other organs. The goal was to better understand the disease's natural histo…

This completed study looked at how well children with cystic fibrosis (CF) and primary ciliary dyskinesia (PCD) can use their arms for exercise, how their muscles use oxygen, and their balance. Researchers compared 88 children aged 6-18 with CF, PCD, and healthy peers. The goal w…

This study looked at how well people with Primary Ciliary Dyskinesia (PCD) clear mucus from their lungs, based on which gene mutation they have. Researchers measured lung clearance in 27 participants, including healthy volunteers and PCD patients with different genetic mutations.…