Mineral metabolism disease

This study tests a new drug called AP306 in 168 adults on maintenance hemodialysis who have high phosphate levels (hyperphosphatemia). Participants take one of several fixed doses of AP306 or a placebo daily for 8 weeks. The main goal is to see if AP306 safely lowers blood phosph…

This phase 2 trial tests an experimental drug called vamifeport in 84 adults with HFE-related hereditary hemochromatosis, a genetic condition causing iron buildup. The drug aims to reduce liver iron levels, potentially offering an alternative to regular blood removal. Participant…

This study tests whether the antibiotic rifampin can safely lower high calcium levels in the blood and urine of people with a rare genetic mutation in the CYP24A1 gene. The condition can cause kidney stones and other problems. Sixty participants aged 6 months to 65 years will tak…

This study tests whether dipyridamole, a drug usually used for heart conditions, can raise low phosphate levels in kidney transplant recipients. Researchers will give the drug to 90 adult patients when their phosphate drops below normal. The goal is to see if it improves phosphat…

This study tests a new drug called TS-172 in 30 adults on peritoneal dialysis who have high phosphorus levels. Participants take the drug daily for several weeks to see if it can safely bring their phosphorus down to a target range. The goal is to find a better way to manage this…

This study compares two treatments for a condition called primary aldosteronism, where a small adrenal gland tumor causes high blood pressure. One treatment is laparoscopic surgery to remove the tumor; the other is radiofrequency ablation (RFA), which uses heat delivered through …

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 study tests a new drug called TS-172 in 30 adults on hemodialysis who have high phosphate levels. Participants take the drug daily for a period, and researchers check if their phosphate levels drop to a target range. The goal is to see if TS-172 can help control phosphate, a…

This early-stage trial tests an oral drug called BBI-001 for hereditary hemochromatosis, a condition where the body stores too much iron. The study has two parts: one checks safety in healthy volunteers, and the other measures how well the drug controls iron levels in patients. A…

This study is testing a new hip replacement system called the HIT Reverse Hip Replacement System. It is for people aged 50 to 75 who need a total hip replacement due to arthritis, joint damage, or other conditions. The goal is to see if the new system is as safe and effective as …

This Phase 3 trial tests pegtibatinase, an enzyme given as a shot, in 70 people aged 12–65 with classical homocystinuria. The goal is to see if it safely lowers high homocysteine levels when added to standard care. Participants receive either the drug or a placebo for 24 weeks.

This study tests whether using a special shockwave device to break up calcium before placing a stent works better than the usual balloon angioplasty in people with peripheral artery disease (PAD) and heavily calcified leg arteries. About 120 participants will be randomly assigned…

This study tests a drug called encaleret in 28 children (birth to 17 years) with autosomal dominant hypocalcemia type 1 (ADH1), a rare genetic condition causing low blood calcium. The goal is to see if the drug can safely raise calcium levels and reduce urinary calcium loss. Part…

This study tests an experimental drug called TS-172 in 100 adults on hemodialysis who have high phosphorus levels. Participants will take TS-172 or a placebo alongside their usual phosphate binders. The goal is to see if TS-172 helps more patients reach safe phosphorus levels, wh…

This early-stage study tests whether stem cells from human amniotic fluid can help heal painful skin wounds (calciphylaxis) in people with chronic kidney disease. Nine participants will receive the stem cell treatment, and researchers will measure wound healing and pain levels. T…

This study tests a device called PTeye™ that uses near-infrared light to help surgeons see and protect tiny parathyroid glands during total thyroid removal. About 210 adults in Hong Kong will be randomly assigned to standard surgery or PTeye™-assisted surgery. The goal is to see …

This study tests a blood filtering procedure called rheopheresis to treat calciphylaxis, a rare condition causing painful skin wounds in people on dialysis. About 138 participants will receive either rheopheresis or a sham procedure to see if it helps wounds heal completely withi…

This phase 3 trial tests whether AP301, a drug taken with meals, can safely lower high blood phosphate in people on kidney dialysis. About 264 participants will receive either AP301 or a low-dose version for 8 weeks, then all get AP301 for 24 weeks. The goal is to see if AP301 he…

This phase 3 study tests a new drug called TS-172 in 300 adults on hemodialysis who have high phosphate levels. Participants take the pill daily for up to a year to see if it safely and effectively controls phosphate. The goal is to offer a better treatment option for a common co…

This study tests whether a phosphate supplement in granule form can safely raise low blood phosphate levels in 60 ICU patients. Participants take the granules daily for up to 14 days, with doses adjusted based on how low their phosphate is. Researchers will check blood levels dai…

This study tests a new drug called KK8123 for adults with X-linked hypophosphatemia (XLH), a rare genetic condition that causes low phosphate levels and bone problems. The trial has two parts: first, finding the right dose, then checking safety and how well it works over time. Ab…

This study tests whether injecting sodium thiosulfate directly into painful calcium deposits (calcinosis) can shrink them and ease symptoms. Twenty adults with scleroderma, dermatomyositis, or mixed connective tissue disease will receive ultrasound-guided injections. The main goa…

This study is testing whether a 21-day spa program—including mineral water baths, exercise, and diet—can improve kidney function and reduce symptoms in 150 adults aged 40-70 with chronic kidney or urinary tract diseases. Participants receive standard spa care at a resort in the C…

This study looks at whether a personalized strength exercise program can improve muscle function and reduce weakness attacks in adults with hypokalemic or hyperkalemic periodic paralysis. Over 24 weeks, 36 participants will be tested at the start, at 12 weeks, and after 12 weeks …

This study aims to learn more about methylmalonic acidemia (MMA) and related disorders by observing people with these conditions over time. Researchers will track complications, perform tests like blood draws and MRIs, and look for new genetic causes. The goal is to better unders…

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 reviews 10 years of medical records from 600 adults who had thyroid surgery at Minia University Hospital. The goal is to find out which patients are most likely to develop low calcium levels after surgery, a common complication. By identifying key risk factors, doctors…

This study aims to understand why some people are more prone to fungal infections, especially from Candida yeast. Researchers will collect blood, saliva, urine, and tissue samples from people with immune disorders, their family members, and healthy volunteers. No treatment is giv…

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 aims to collect information and bone samples from up to 1,000 people with bone or mineral disorders, such as tumor-induced osteomalacia or familial tumoral calcinosis. Participants receive standard medical evaluations and may provide bone tissue from surgery or a biops…

This study uses leftover tissue from heart and orthopedic surgeries to learn more about how calcification (hardening) happens in bones and blood vessels. Researchers will grow cells from these tissues in the lab to study the process. The goal is to better understand the disease, …

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 looks at how long-term phosphate therapy affects the kidneys, blood vessels, and heart in people with two rare bone disorders: X-linked hypophosphatemia (XLH) and hereditary hypophosphatemic rickets with hypercalciuria (HHRH). Researchers will measure hormone levels an…

XLH is a rare genetic condition that causes low phosphate levels, leading to weak bones and pain. Burosumab is a standard treatment, but the best starting dose is still unclear. This study will review the medical records of 120 children across England to see if a lower dose (unde…

This study follows 500 adults who received a stem cell transplant at least 10 years ago to see if iron buildup in the body raises the risk of liver problems. Researchers will use blood tests and a special liver scan (FibroScan) to check for damage. The goal is to understand wheth…

This study is collecting blood and other samples from 5,000 children and young adults (under 21) who are already taking certain medications as part of their regular care. The goal is to understand how these drugs move through and affect children's bodies, so doctors can prescribe…

This study looks at a rare but serious condition called calciphylaxis, where small blood vessels in the skin harden, often leading to death. Researchers will compare 860 adults with chronic kidney disease—some who have calciphylaxis and some who don't—to find clues about what cau…

This study is checking whether people newly diagnosed with high blood pressure who also have high homocysteine levels are more likely to have early signs of heart stiffness. Researchers will measure homocysteine in blood and use ultrasound to look at heart function in 500 adults.…

This study follows 180 children in Italy born with biotinidase deficiency, a rare condition that can cause skin, eye, and nerve problems if untreated. Researchers will compare each child's genetic makeup with their enzyme activity levels and health outcomes. The goal is to better…

This study looks at whether eating too much phosphate—common in many US diets—can reduce your ability to exercise and increase belly fat. Researchers will measure oxygen use during cycling and energy production in muscles. About 124 healthy adults will take part to see if finding…

This study aims to develop a better way to measure calcium deposits under the skin in people with scleroderma. Researchers will use CT scans and special software to see if these measurements match how patients report their symptoms. About 56 adults with scleroderma and calcium de…

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 follows 1500 people with rare genetic brain disorders to learn how these diseases progress. Researchers measure thinking, movement, and daily living skills over time, and also look at brain scans and body fluids. The goal is to better understand the diseases and how tr…

This study looks at how calcium deposits in artery walls affect the healing of a stent (a small mesh tube) placed to open blocked arteries. Researchers will use a special camera to compare stent healing over calcium spots versus healthy tissue in 40 patients with coronary artery …

This study collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trial…

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 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…