Developmental and epileptic encephalopathy

This early study will test a new way to use deep brain stimulation (DBS) in 4 adults with Lennox-Gastaut syndrome, a severe form of epilepsy. The device will automatically adjust stimulation based on whether the person is awake or asleep. Researchers want to see if this personali…

This study tests whether the drug Fintepla (fenfluramine) can improve how the brain and lungs respond to carbon dioxide in people with Dravet syndrome, a severe epilepsy. Poor responses to CO2 may increase the risk of sudden unexpected death in epilepsy (SUDEP). Twenty-five parti…

This study looks at the best way to switch children with Dravet or Lennox-Gastaut syndrome from artisanal (non-pharmaceutical) cannabidiol to Epidiolex, an FDA-approved CBD medication. About 25 children aged 2 to 18 will gradually increase their Epidiolex dose while reducing thei…

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 a drug called N-acetyl-L-leucine for people aged 4 and older with CACNA1A gene disorders, which can cause coordination problems, dizziness, and migraines. About 60 participants will receive either the drug or a placebo, then switch, to see if it improves movement…

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 tests whether high doses of melatonin, a natural sleep hormone, can safely reduce abnormal brain activity in children with DEE-SWAS, a rare epilepsy that causes skill loss. Only 3 children will participate, and researchers will monitor side effects and changes in brain…

This study will follow 60 children with SLC6A1-NDD, a rare genetic condition causing seizures, developmental delays, and autism. Researchers will track symptoms like seizure frequency and development over time to better understand the disease. The goal is to gather information th…

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 will check if two common brain monitors used during anesthesia (BIS and Sedline) give accurate readings in children with severe seizure disorders. Researchers will compare these monitors to a standard EEG in 40 children under 16. The goal is to make anesthesia safer fo…

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…

This study tests a new DNA technology called long-read genome sequencing in 20 children with severe epilepsy whose standard genetic tests came back normal. The goal is to find hidden genetic causes that standard tests miss, which could lead to better treatments and genetic counse…

This study tests whether a wearable device that records brain waves, heart rate, and movement at home can help doctors better adjust the dose of the seizure drug fenfluramine for people with Dravet syndrome or Lennox-Gastaut syndrome. Twenty patients will wear the device for 3-7 …

This study looks at 70 children aged 1 month to 18 years who have neurological disorders like epilepsy, migraine, or stroke. Researchers will use echocardiograms and ECGs to check for hidden heart problems. The goal is to understand if heart issues are common in these children an…