Mineral metabolism disease

This study tests the safety of a drug called ferric citrate in children aged 6 to 17 with chronic kidney disease who have high phosphorus levels. The drug is taken by mouth to help control phosphorus, which can cause bone and heart problems if too high. The study involves 45 chil…

This study tests a new drug called encaleret against usual treatments for people with a rare genetic condition called autosomal dominant hypocalcemia type 1 (ADH1), which causes low blood calcium and high urine calcium. About 67 participants will receive either encaleret or stand…

This study tests whether using a blood marker called transferrin saturation to guide bloodletting (removing blood) improves quality of life in people with HFE haemochromatosis, a genetic condition causing iron buildup. 239 adults already on maintenance bloodletting will be random…

This study looks at whether the MCV test (which measures red blood cell size) is as good as or better than the standard ferritin test for guiding phlebotomy (blood removal) therapy in people with hereditary hemochromatosis, a condition causing too much iron absorption. About 622 …

This study compares a new, less invasive shockwave device to standard surgery for treating severe calcium buildup in the main leg artery. The shockwave uses sound waves to break up the calcium, while surgery involves physically removing the blockage. Researchers want to see if th…

This study tests the long-term safety and effectiveness of pegtibatinase in people with classical homocystinuria (HCU), a rare genetic disorder that prevents the body from breaking down certain amino acids. About 100 participants who completed earlier studies will receive the dru…

This study tests whether adding cabergoline to osilodrostat works better than osilodrostat alone for controlling Cushing's disease. About 50 adults with active Cushing's disease will receive either the combination or the single drug. The goal is to see if the combo can lower cort…

This study tests a special balloon designed to open up hardened leg arteries in people with peripheral artery disease. About 58 participants with moderate to severe calcium buildup will receive the balloon treatment. Researchers will check if the balloon successfully widens the a…

This study was designed to see if giving calcium right away to trauma patients who need large blood transfusions could help their blood clot better, reduce the need for more transfusions, and improve survival. The trial was withdrawn before enrolling any participants, so no resul…

This study follows 52 people who already received a Vivacit-E hip liner during total hip replacement. Researchers will track how long the implant lasts and any problems over 10 years. The goal is to confirm the liner is safe and helps reduce pain and improve movement for conditio…

This study tests whether taking potassium supplements can slow down kidney function loss in people with moderate-to-severe chronic kidney disease (CKD) and high blood pressure. About 532 adults with CKD stage 3b or 4 will receive potassium or a placebo. The goal is to see if pota…

This study tests whether using a shockwave device (intravascular lithotripsy) along with standard artery preparation can improve outcomes for people with moderate to severe coronary artery calcification. About 1,096 participants will be split into two groups: one gets standard pr…

This phase 3 trial tests whether colchicine, an anti-inflammatory drug, can slow the progression of aortic valve stenosis—a narrowing of the heart's aortic valve that currently has no drug treatment. The study enrolls 150 people with moderate, symptom-free valve disease. Particip…

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

This study tests advanced ultrasound signal processing to make breast images clearer. Researchers will compare new beamforming methods to standard ultrasound in 252 women with breast findings like cysts or microcalcifications. The goal is to better see important features and tell…

This study aimed to see if an educational game called Yapouni could help children aged 3 to 16 use their CPAP or NIV breathing machines more consistently. The game was designed to motivate children by linking machine use to a hot air balloon's flight. However, the study was withd…

This study tests a program called FACE-Rare, designed to support family caregivers of children with rare, life-limiting diseases. The program includes three sessions to help families prepare for future medical decisions and improve their quality of life. Researchers will compare …

This observational study follows 782 people with X-linked hypophosphatemia (XLH), a rare genetic bone disease, to understand how the condition changes over time. It also monitors the long-term safety and effectiveness of the drug burosumab. No new treatment is given; participants…

This study is for people with autosomal dominant hypocalcemia types 1 or 2, rare genetic conditions that cause low blood calcium. Researchers will collect past and future health data from 95 participants to learn how the disease changes over time. The goal is to better understand…

This study looks at whether telling women about breast artery calcification (BAC) found on mammograms can encourage them to see a heart doctor and adopt healthier habits. Over 5,400 women participated, with a smaller group randomly receiving a letter that included their BAC resul…

This study is building an online platform called DBS MatchMaker to connect doctors around the world who treat rare movement disorders with deep brain stimulation (DBS). The goal is to help doctors share knowledge and find the best ways to treat patients. Up to 500 people of all a…

This early study tests whether taking creatine supplements for a week can lower the production of homocysteine, a toxic amino acid, in healthy adult men. Homocystinuria is a rare inherited disorder where the body cannot break down homocysteine, often requiring a difficult low-pro…

This study was designed to see if a cholesterol-lowering drug called a PCSK9 inhibitor could also reduce inflammation in the arteries of people with heart disease. Researchers planned to use a special imaging scan to measure inflammation. The study was withdrawn before enrolling …