Calcinosis

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 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 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 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 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 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 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 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 …

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 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 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 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 …

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…