Leukodystrophy

This study tests a gene therapy called PBKR03 for babies with early infantile Krabbe disease, a severe genetic disorder that damages the brain and nerves. The treatment delivers a working copy of the GALC gene to the brain and body. Researchers will check safety and find the best…

This early-stage trial tests an experimental drug called BI 3000202 in 16 adults with rare type 1 interferonopathies, such as Aicardi-Goutières syndrome. Participants take a low dose for 4 weeks, then a higher dose for 36 weeks. The main goal is to see if the drug is safe and how…

This early-stage trial tests whether a single infusion of donated mesenchymal stem cells is safe for children with cerebral adrenoleukodystrophy (cALD), a rare and life-threatening brain disease. The stem cells are given as a temporary bridge to buy time before a more definitive …

This clinical trial is testing whether dimethyl fumarate, a drug already used for multiple sclerosis, can improve balance and walking in adults with adrenomyeloneuropathy (AMN), a rare nerve disease. Forty participants will take either the drug or a placebo daily for 36 months, w…

This study tests a one-time gene therapy infusion (FBX-101) given after a standard stem cell transplant in 6 children with infantile Krabbe disease, a severe genetic disorder affecting the nervous system. The therapy uses a harmless virus to deliver a working copy of the GALC gen…

This study tests a drug called SHP611, given as a spinal injection, in 36 children with late infantile metachromatic leukodystrophy (MLD), a rare and severe brain disease. The main goal is to see if the treatment helps children keep their ability to walk and move for as long as p…

This Phase 3 trial tests whether zilganersen (ION373) can improve or stabilize motor function in people with Alexander disease, a rare genetic brain disorder. Fifty-four participants aged 2 to 65 will receive either the drug or a placebo injected into the spine. The study measure…

This study gives one child with Cree Leukoencephalopathy (CLE) access to an experimental drug called fosigotifator. CLE is a rare, inherited brain disease that destroys white matter and leads to early death. The drug aims to slow or stop the damage, possibly easing symptoms and i…

This program offers early access to fosigotifator, an oral drug, for people with Vanishing White Matter or Cree Leukoencephalopathy—two rare, serious brain diseases. A doctor must decide if the potential benefit outweighs the risks for each patient. The drug is not yet approved, …

This study follows 20 adults with CSF1R-related leukoencephalopathy, a rare genetic brain disease, who are scheduled for a stem cell transplant. Researchers will measure changes in thinking, movement, and brain scans over time to see if the transplant helps stabilize or improve s…

This study tests a stem cell transplant method for people with inherited metabolic disorders and severe osteopetrosis. The goal is to get the donor cells to take hold while keeping side effects low. Participants receive chemotherapy drugs before the transplant to prepare their bo…

This study gives one patient with Cree Leukoencephalopathy, a rare and fatal brain disease, access to an experimental drug called fosigotifator. The drug aims to slow or stop the brain damage that causes severe disability and early death. Researchers will track whether the patien…

This early-phase trial tests a single infusion of a gene therapy called FBX-101 in 9 people with Krabbe disease who have already received a stem cell transplant. The therapy uses a harmless virus to deliver a working copy of the GALC gene, aiming to improve motor function and saf…

This study tests a single dose of AVASPA gene therapy given directly into the brain of children with Canavan disease, a rare and severe genetic disorder that damages white matter. The therapy aims to restore a missing enzyme to help the brain produce myelin and slow disease progr…

This study tests a single infusion of OTL-200 gene therapy in 6 people with late juvenile metachromatic leukodystrophy (MLD), a rare genetic disease that damages the brain and nerves. The therapy uses the patient's own blood stem cells, modified to produce a missing enzyme. Resea…

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 study tests whether an AI tool can help radiologists read brain CT and MRI scans more accurately and quickly. Researchers will compare how well doctors, AI alone, and doctors using AI together can spot abnormalities, urgent findings, and classify diseases. The goal is to red…

This study looks at whether a special brain scan called diffusion tensor imaging (DTI) can help doctors find Krabbe disease in newborns and decide who needs urgent treatment. About 100 babies with a positive newborn screen or family history of Krabbe disease will be scanned and f…

ScreenPlus is a large pilot program that offers families the option to have their newborn screened for a panel of rare genetic disorders, in addition to standard newborn screening. The study aims to screen 100,000 infants born at eight hospitals in New York. Researchers will eval…

This study looks at whether pramipexole, a drug used for restless leg syndrome, can ease leg symptoms in women with X-linked adrenoleukodystrophy (ALD). About 24 women will take the drug or a placebo for two months. The goal is to see if it improves sleep, walking, and quality of…

This study tests whether a home-based brain stimulation device (tDCS) combined with activity therapy can help improve cognitive and language problems in people with stroke, brain tumors, or neurodegenerative conditions like Parkinson's or Alzheimer's. Fifty-five participants will…