Renal tubule disorder

This study tests a gene therapy called DFT383 in 30 children aged 2 to 5 with nephropathic cystinosis, a rare disease that damages kidneys and other organs. The treatment aims to fix the genetic problem so children may no longer need daily cysteamine medication. Researchers will …

This study tests an experimental drug called IG3018 for people with high uric acid, some of whom also have chronic kidney disease. About 60 adults will receive either the drug or a placebo for 4 weeks. Researchers will check safety, side effects, and how well the drug lowers uric…

This study tests whether the diabetes drug empagliflozin (Jardiance) can safely raise low sodium levels in people with certain conditions like SIADH, liver failure, or kidney failure. About 172 adults with chronic low sodium will receive either the drug or a placebo for up to 30 …

This study aims to see if a home lactate meter and a standard glucose meter give accurate readings compared to lab tests in people with glycogen storage disease types Ia, Ib, and XI. Ten participants will have an 8-hour hospital stay with hourly blood draws and finger-stick tests…

This study compares two types of ultrasound-guided nerve blocks for pain control after open kidney removal surgery. Ninety adults will receive either a rhomboid intercostal sub-serratus plane block or an external oblique intercostal block. Researchers will measure how long it tak…

This study tests whether letting a bladder catheter fall out on its own (passive removal) is better than having a nurse pull it out (active removal) after urological surgery. 160 men will be randomly assigned to one method. Researchers will measure satisfaction, pain, and anxiety…

This study follows up to 3,000 people who have, are at risk for, or are related to someone with a parathyroid disorder. Researchers will collect medical records, questionnaires, and samples like blood and saliva to learn what causes these conditions and how they change over time.…

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 study aims to find the specific genes and mutations that cause rare, inherited forms of kidney stone disease. Researchers will analyze DNA from up to 6,000 participants to understand how these genetic changes lead to stones. The goal is to use this knowledge to develop bette…

This study is for older adults, including those in the hospital or with low priority care needs. Researchers want to see if newer methods, like body scans and blood tests, can better detect malnutrition and kidney problems than current standard tests. The goal is to make diagnosi…

This study looks at whether breathing a lighter gas mixture (heliox) can make it easier to breathe and think clearly when breathing is hard. Fifteen healthy adults will breathe normal air or heliox while doing thinking tests. The goal is to see if reducing the work of breathing i…

This observational study will follow 2000 children and adults with imprinting disorders—rare genetic conditions like Silver-Russell and Prader-Willi syndromes. Researchers aim to describe the natural history of these diseases and identify common metabolic profiles, risks for obes…

This study tests a new method to help patients understand complex spine or prostate surgeries before they agree to them. Instead of just reading a form, patients watch multimedia content and answer questions to check their understanding. The goal is to see if this approach makes …

This study looks at how well three AI models—ChatGPT, Gemini, and Deepseek—can diagnose and suggest treatments for urology diseases. Researchers will use 800 past patient records from four hospitals to check the AI's accuracy and usefulness. The goal is to understand if AI can he…

This study at the University of Michigan is testing whether ultrasound can monitor bone graft healing after tooth extraction, potentially replacing more invasive scans. About 140 adults needing a tooth extraction and bone graft for a future dental implant will have their healing …

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…

This study aims to learn more about rare disorders that affect how the body processes chemicals called pyrimidines and purines. These disorders can cause problems in the brain, blood, kidneys, and immune system, ranging from mild to life-threatening. Researchers will compare test…