Disorder of metabolite absorption and transport

This trial tests an experimental gene therapy called MWAV201 in adults with Wilson disease, a genetic condition that causes copper to build up in the body. The treatment uses a harmless virus to deliver a corrected gene, potentially restoring the body's ability to remove copper. …

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 tests a one-time gene therapy called UX701 for adults with Wilson disease, a genetic condition that causes copper buildup. The goal is to see if it is safe and can help the body control copper levels, possibly allowing patients to take fewer or no daily medications. Ab…

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 program gives children under 6 with Menkes disease access to copper histidinate injections. Menkes disease is a rare genetic disorder where the body cannot properly use copper, leading to severe developmental problems. The treatment aims to supply the missing copper to help …

This early-stage trial tests a single dose of VTX-801 gene therapy in 4 adults with Wilson's disease, a rare condition where copper builds up in the body. The goal is to see if the treatment is safe and can help control copper levels, possibly allowing patients to stop their usua…

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 trial investigates whether a daily effervescent supplement containing calcium, magnesium, and citrate can prevent bone loss, magnesium deficiency, and kidney damage in adults who take proton pump inhibitors (PPIs) long-term for conditions like heartburn or GERD. Participants…

This study looks at whether eating a diet high in magnesium can help prevent low blood magnesium levels in women with ovarian cancer who are receiving carboplatin chemotherapy. Low magnesium is a common side effect of this treatment. The study enrolled 26 participants and will me…

This study investigates whether children with Wilson's disease, who appear to have normal heart function, may actually have subtle heart problems. Using advanced echocardiography, ECG, and a blood test for a heart stress marker, researchers will compare these children to healthy …

This study looks at how much people trust institutions (like health organizations) when it comes to advice about physical activity. Researchers will ask 2000 volunteers questions about their trust levels, lifestyle, and background. The goal is to understand what factors influence…

This study surveys 30 adults with Wilson disease to learn about their daily management, treatment adherence, and interest in gene editing clinical trials. By gathering this information, researchers hope to design better future studies for potential gene therapies targeting specif…

This study gathers long-term health information from up to 50 people with Menkes disease, a rare genetic disorder. The goal is to track survival and nervous system changes over time. No new treatments are being tested; instead, researchers are collecting data to better understand…

This study will use special PET scans to see how gene therapy (UX704) changes copper distribution in the bodies of 5 people with Wilson disease. The goal is to understand if the therapy helps the liver handle copper better. It is an early, observational imaging study, not a test …