Cystinosis

This study tests whether adding the drug vorinostat to standard care can prevent graft-versus-host disease (GVHD) in children and young adults (ages 1-26) with non-cancerous blood disorders who are getting a bone marrow transplant. GVHD is a serious complication where donor cells…

This trial will test an artificial intelligence system designed to interpret routine newborn screening tests for inherited metabolic disorders. Researchers will compare the AI's accuracy to standard manual review by trained staff. The study plans to include 200,000 newborns in Ch…

People with Fanconi anaemia have a high risk of developing oral cancer, but standard biopsies are painful and risky due to their genetic sensitivity. This study tests a non-invasive oral brushing technique to detect early cancer cells in 115 patients aged 15 and older. If accurat…

This study follows 250 people with cystinosis, a rare genetic disorder that causes a buildup of the amino acid cystine, leading to damage in the kidneys, eyes, and other organs. Researchers will track how the disease progresses over time, including kidney function, eye problems, …

This study looks at how energy production inside cells (mitochondria) works in people with cystinosis, a rare disease that causes cystine buildup and early aging. Researchers will measure cell energy activity in 25 patients and compare it to healthy people. The goal is to underst…

This 10-year observational study will follow 10,000 adults with diabetes, metabolic disorders, and related conditions like high blood pressure and fatty liver disease. Researchers will collect routine medical data to identify markers of disease severity and activity. The goal is …