Atypical Rett syndrome

This early-stage trial tests a new gene therapy called FRF-001 for FOXG1 syndrome, a rare genetic disorder that affects brain development. The therapy is given as a single injection into the brain's fluid spaces. The study will include 12 children and adults and will check for sa…

This study tests whether the drug ganaxolone can reduce seizures in children aged 6 months to 2 years with CDKL5 deficiency disorder, a rare genetic condition causing hard-to-control seizures. Twenty children will receive either ganaxolone or a placebo alongside their usual seizu…

This study tests whether a simple saliva swab can find genetic causes of neurodevelopmental or intellectual disorders when standard blood tests have not. Researchers will use advanced DNA sequencing on cheek cells from 50 participants. The goal is to improve diagnosis and help gu…

This study aims to validate a French translation of the SOSI-M test, which measures sensory integration in children. Researchers will film 60 children (30 healthy, 30 with mild to moderate neurodevelopmental disorders) taking the test and compare scores. The goal is to see if the…

This study tests whether taking a daily hot bath (40-42°C for 20 minutes) at home can reduce epileptic seizures in children with CDKL5 deficiency disorder. The trial will include 34 children aged 6 months to 14 years whose seizures are not controlled by medication. Researchers wi…

This study will test whether using results from a sensory integration assessment can improve counseling for children aged 3-12 with neurodevelopmental problems like sensory sensitivity or coordination difficulties. Researchers will measure changes in sensory processing and daily …

This study looks at using simple, low-cost communication tools like picture boards and gestures for children with autism who have trouble speaking. It involves 500 children and their caregivers in rural Virginia and western Kenya. The goal is to find better ways to match each chi…

This study will use a digital platform with game-like tasks to measure thinking and reading skills in 300 children aged 3-11 who are suspected of having a neurodevelopmental disorder. The goal is to create detailed cognitive profiles before a formal diagnosis, helping to identify…