RETT SYNDROME

This early-stage trial tests the safety and effectiveness of vorinostat, a drug already used for cancer, in 15 girls and young women with Rett syndrome. Each participant serves as their own control, taking a placebo first, then low and high doses of the drug. The goal is to see i…

This study tests a one-time gene therapy called TSHA-102 for females with Rett syndrome, a severe genetic disorder. The therapy is given as a single injection into the spine. The goal is to see if it is safe and can help patients regain lost skills like walking or talking. The st…

This study tests a one-time gene therapy called TSHA-102 in girls aged 2 to 4 with Rett syndrome, a severe genetic brain disorder. The treatment is given as a single injection into the spinal fluid. The goal is to see if it is safe and if it can improve symptoms. Only 3 participa…

This study tests a gene therapy called NGN-401 in girls with Rett syndrome, a rare genetic disorder that affects development and movement. The goal is to see if the treatment can help improve skills and daily function. About 33 girls aged 3 and older will take part in this Phase …

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 program for children aged 2-12 with genetic syndromes 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 pr…

This registry collects information from caregivers of people with Rett syndrome to help researchers learn more about the condition. Caregivers can track symptoms and treatments over time, and share data to speed up research. Anyone with a Rett diagnosis can join, regardless of ag…

This study looks at how the brains of people with Rett syndrome respond to sound. Participants wear a noninvasive EEG cap and listen to simple sounds through headphones. Caregivers also answer questions about symptoms and daily life. The goal is to better understand brain activit…

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 the devices at home and during one overnight clinic visit. The goal is to validate these tools…

This study looks at brain activity in girls with Rett syndrome to find measurable signs (biomarkers) of the disease. Researchers will use EEG tests to see if these brain signals change with the condition and if they are stable over time. About 200 girls and young women, ages 1 to…