RETT SYNDROME

This study tests a one-time gene therapy called TSHA-102 for females with Rett syndrome, a rare genetic disorder that affects brain development. The therapy is given as a single injection into the spinal fluid. The goal is to see if it is safe and can help improve skills like wal…

This early-stage study tests the safety and effectiveness of vorinostat in 15 girls and young women (ages 6-21) with Rett syndrome. Each participant acts as their own control, receiving placebo first, then two different doses of the drug. The goal is to see if vorinostat can impr…

This study tests a new gene therapy called NGN-401 in females with Rett syndrome, a rare genetic disorder that affects development and movement. The goal is to see if the treatment can help participants gain new skills or improve their condition. About 33 girls and women aged 3 a…

This study tests whether an oral drug called bionetide can improve symptoms in girls and women with Rett syndrome, a rare genetic disorder that affects movement, breathing, and communication. About 210 participants aged 5 to 20 will receive either bionetide or a placebo for 12 we…

This study tests a telehealth therapy for children aged 2-12 with genetic conditions like Fragile X or Angelman syndrome who have intellectual disabilities and challenging behaviors. Over 3-6 months, parents work with a therapist via video calls to learn strategies that promote p…

This study looks at how the brains of people with Rett syndrome respond to sound. About 60 participants aged 2 and older will wear a noninvasive EEG cap while listening to simple sounds through headphones. Parents or caregivers will also answer questions about symptoms and daily …

This study tests whether wearable biosensors can accurately measure symptoms like heart rate, breathing, sleep, and movement in people with Rett syndrome. About 30 participants will use FDA-cleared devices at home and during one overnight clinic visit. The goal is to validate the…

This study looks at brain activity in girls with Rett syndrome to find measurable markers that change with the disease. Researchers will use EEG tests to compare brain signals between girls with Rett syndrome and typically developing girls. The goal is to identify stable markers …

This study creates a worldwide online registry for caregivers of people with Rett syndrome. Caregivers can track symptoms, treatments, and milestones over time, and share this information with researchers. The goal is to better understand the condition and help design more effect…