Familial steroid-resistant nephrotic syndrome with sensorineural deafness

This study tests a new type of stem cell transplant for children with primary immune deficiencies or inherited metabolic disorders. The transplant uses stem cells from a half-matched family donor, which are specially processed to remove certain immune cells. The goal is to see if…

This study tests a bone marrow transplant from a family donor for children under 21 with severe non-cancer blood disorders like sickle cell disease, bone marrow failure, or immune problems. The goal is to see if the transplant can replace the diseased cells with healthy donor cel…

This program offers extra stem cells from a half-matched family donor to patients who are getting a cord blood transplant for serious blood cancers or immune disorders. The goal is to help the bone marrow recover more quickly while the cord blood cells take over permanently. It i…

This Phase 2 trial tests whether KL1333 can reduce fatigue and improve leg strength in adults with primary mitochondrial disease, a genetic condition that affects energy production. About 180 participants will receive either KL1333 or a placebo twice daily for 48 weeks. The study…

This study tests a device called Walkasins, worn on the lower legs, that vibrates to give sensory feedback about foot pressure. The goal is to see if using it daily for six months improves balance and walking in 200 adults aged 55+ with peripheral neuropathy. Participants will do…

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 aims to better understand and treat people with certain inherited metabolic or genetic disorders. Researchers will use standard medical tests like blood work and imaging to diagnose and care for participants, who may also join other related studies. The goal is to expa…

This study at the National Institutes of Health looks at how infections can worsen symptoms in people with mitochondrial disease, a group of disorders that affect energy production in cells. Researchers will evaluate participants' immune systems through blood tests, physical exam…

This study aims to learn more about rare inherited disorders that affect the brain, spinal cord, muscles, and nerves. Researchers will collect medical history, perform exams, and run genetic tests on up to 3,500 participants. No new treatments are tested; the goal is to better un…

This study looks at children with suspected or confirmed genetic and metabolic disorders to find new disease-causing gene mutations. Researchers will analyze blood samples for DNA and metabolites, and in some cases take a small skin sample. The goal is to better understand these …

This study at Necker Hospital in Paris is checking how well patients with inherited metabolic diseases follow their daily oral medication routines. About 200 patients (children aged 7 and up, teens, and adults) will fill out a questionnaire during a regular visit. The goal is to …

This study enrolls up to 15,000 children with known or suspected endocrine or metabolic disorders, along with their family members. Researchers will collect medical records, blood, saliva, and other samples to identify genetic changes linked to these conditions. The goal is to be…

This study is creating a large collection of blood, urine, stool, and heart tissue samples from 10,000 people with and without heart or metabolic conditions. The goal is to store these samples along with medical information to speed up future research into what causes these disea…

This study helps people with certain kidney diseases (like nephrotic syndrome and FSGS) find clinical trials that match their specific disease profile. Researchers analyze participants' molecular data to recommend targeted therapies in ongoing trials. The goal is to improve treat…

This study tests a new communication tool called 'Let's Get REAL' that helps children and teens (ages 8-17) and their families talk together about stem cell transplant or cellular therapy decisions. The goal is to see if the tool is easy to use and helpful for families. About 60 …

This study aims to see if a quick bedside sensory test can predict which painkiller—pregabalin, duloxetine, or a placebo—works best for people with nerve pain in their feet. About 190 adults with diabetic, chemotherapy-related, or idiopathic nerve pain will try each treatment for…

This study is investigating whether certain autoantibodies, especially those targeting a protein called nephrin, play a role in nephrotic syndrome, a kidney condition that causes swelling and protein loss in urine. Researchers will analyze blood and kidney tissue from 50 children…

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 DNA methylation patterns (chemical tags on DNA) in fetuses with rare genetic diseases. Researchers will analyze DNA from amniotic fluid and tissue samples to create reference signatures. The goal is to improve diagnosis of these conditions before birth. The st…

This study is collecting information from 4,000 adults with peripheral neuropathy (nerve damage) to better understand the condition. Researchers will combine standard tests with nerve ultrasound to see if it helps diagnose and track the disease. No new treatments are being tested…

This study uses MRI scans to look for brain differences in people with metabolic diseases compared to healthy volunteers. Researchers will track changes over time and link them to body fat and other health measures. About 126 adults will take part at Ulm University Hospital. No d…

This study is creating a large registry and tissue bank for people with mitochondrial disorders. Researchers will collect medical information and samples from up to 1,000 participants, including those diagnosed with or suspected to have a mitochondrial disease. The goal is to gat…

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 is collecting nerve samples and biofluids from 400 people with ALS or peripheral neuropathies to find biological markers for early diagnosis and disease tracking. By analyzing individual cells, researchers hope to identify molecular changes that happen before symptoms …

This study looks at how often young children (ages 1 to 6) with inherited metabolic diseases develop eating disorders when they are on special diets. Researchers will use a feeding scale to measure eating problems in 200 children. The goal is to understand the link between these …

The SMILE study is tracking 10,000 adults aged 18 and older to see how sarcopenia (age-related muscle loss) and metabolic diseases like diabetes influence overall health and lifespan. Researchers will collect data from medical records, tests, and surveys over time. This is an obs…

This study collects blood and skin samples from 100 people with primary mitochondrial diseases and healthy volunteers aged 3 to 85. Researchers will study how different mitochondrial mutations affect cell function and look for biomarkers. The samples will also help test a new the…

This study is testing whether using rapid genetic sequencing can help doctors diagnose and treat birth defects in newborns in intensive care. Researchers will enroll 2,000 babies and compare death rates, disability rates, and genetic findings. The goal is to see if personalized t…

This study follows 100 children under 18 who are already on a ketogenic diet for conditions like drug-resistant epilepsy, autism, chronic migraine, or brain tumors. Researchers want to see if the diet supports healthy growth, improves symptoms, and boosts quality of life. The die…