RETT SYNDROME

This study tests a one-time gene therapy called TSHA-102 in girls aged 2 to 4 with Rett syndrome, a severe genetic disorder. The therapy is given as a single injection into the spine. The main goal is to check if it is safe and tolerable, and to see early signs of whether it help…

This early-stage trial is testing the drug vorinostat in 15 girls and young women with Rett syndrome, a rare genetic disorder that affects brain development. Each participant will receive placebo and two different doses of vorinostat, acting as their own control. The study aims t…

This study tests a one-time gene therapy called TSHA-102 in females aged 6 to under 22 with classic Rett syndrome. The goal is to see if it is safe and can help them regain or gain new developmental skills like walking or talking. Participants receive the therapy through a spinal…

This study tests an oral medicine called bionetide in 210 girls and women with Rett syndrome, a rare genetic disorder. The goal is to see if bionetide improves behavior and communication compared to a placebo over 12 weeks. Participants must be 5 to 20 years old and have a confir…

This study tests a virtual behavioral therapy (Functional Behavioral Training) for children aged 2-12 with genetic syndromes like Fragile X, Angelman, or Rett syndrome who have challenging behaviors. The therapy teaches parents how to identify what triggers problem behaviors and …

This study creates a large registry of people with Rett syndrome, a rare genetic disorder that causes severe intellectual and physical disabilities. Researchers will collect information from doctors and caregivers to understand how the disease progresses over time. The goal is to…

This study tests whether eye-tracking tasks can detect changes in attention and learning in people with Rett syndrome who are starting a new medication called trofinetide. Researchers will compare eye movements and heart rate before and after 4 weeks of treatment in 20 participan…

This observational study uses a noninvasive EEG test to measure how the brains of people with Rett syndrome respond to simple sounds. Researchers will also ask parents or caregivers about symptoms and daily functioning. The goal is to better understand brain activity patterns in …

This registry collects information from caregivers of people with Rett syndrome worldwide. Participants can track symptoms and treatments online, and researchers can use the de-identified data to better understand the condition and plan future clinical trials. The goal is to spee…

This study tests whether wearable biosensors can accurately track symptoms like heart rate, breathing, sleep, and movement in people with Rett syndrome. Up to 30 participants will use the devices at home for 9 weeks and also undergo one overnight sleep study in the clinic. The go…

This study looks for brain activity patterns (biomarkers) in girls with Rett syndrome. Researchers will use EEG to measure brain waves and see if these patterns change with symptoms or stay stable over time. About 200 girls with Rett syndrome and typically developing girls will t…