ANGELMAN SYNDROME

This early-stage trial is testing whether a single injection of an experimental gene therapy called MVX-220 is safe and can improve symptoms in people with Angelman syndrome. The therapy aims to deliver a working copy of a missing gene directly to the brain. Participants will be …

This study is testing an experimental drug called GTX-102 in people with Angelman syndrome, a rare genetic disorder that affects development and causes seizures and movement problems. Researchers want to see if the drug is safe and if it can improve thinking, communication, behav…

This study is testing whether the experimental drug ION582 can improve symptoms in children and adults with Angelman syndrome, a rare genetic disorder that affects development. About 158 participants aged 2 to 50 will receive either the drug or a placebo for about 60 weeks, follo…

This study is testing a new drug called ION582 for Angelman syndrome, a rare genetic disorder. The drug is given as an injection into the spinal fluid. The main goals are to see if it's safe and how the body processes it in about 70 participants, including children under 2 years …

This study is testing whether a telehealth therapy program can help children with rare genetic syndromes improve their communication and reduce challenging behaviors. Children aged 2-12 with conditions like Angelman syndrome or Fragile X will work with therapists and their parent…

This study aims to understand how children with Angelman syndrome view social situations by tracking their eye movements. Researchers will compare the eye-tracking patterns of 40 children with Angelman syndrome to 20 typically developing children. The goal is to see if this techn…

This French study aims to better understand a group of rare genetic conditions called imprinting disorders by tracking 2,000 patients over time. Researchers will observe patients' health patterns to identify common metabolic risks like diabetes or heart disease. The goal is to ga…