Neuronal ceroid lipofuscinosis

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 early-phase trial tests a gene therapy for children with CLN6 Batten disease, a rare and fatal brain disorder. Twelve children will receive a single injection of the therapy into the fluid around the spinal cord. Researchers will check if it is safe and if it can slow the di…

This phase 3 trial tests whether PLX-200 (gemfibrozil) can safely slow the progression of CLN3 disease, a rare genetic disorder that causes loss of motor skills, vision, and seizures in children. About 39 kids aged 6-18 will receive either the drug or a placebo for up to 96 weeks…

This study tests a dietary supplement called Cardiol Forte in 50 adults with mildly high cholesterol but low overall heart risk. Participants will take either the supplement or a placebo for 8 weeks, then everyone gets the supplement for another 8 weeks. The goal is to see if it …

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…

This pilot study will test whether a non-invasive brain stimulation technique called transcranial alternating current stimulation (tACS) can improve working memory in 30 adults with mild cognitive impairment or traumatic brain injury. Participants will receive low-level electrica…

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 …