Neonatal-onset developmental and epileptic encephalopathy

This Phase 3 trial tests a single inhaled dose of alprazolam (a fast-acting sedative) to stop prolonged seizures in people aged 12 and older. The goal is to see if it can end a seizure within 90 seconds and prevent it from coming back for at least 2 hours. About 350 participants …

This early-stage trial tests a single dose of TSHA-105, a gene therapy injected into the spinal fluid, in 8 people aged 2 to 20 with SLC13A5 citrate transporter disorder. The goal is to see if it is safe and whether it can improve motor and thinking skills. Because the trial is v…

This study tests an experimental drug called LP352 to see if it can safely reduce seizures in children and adults with developmental and epileptic encephalopathies (DEE), a group of severe epilepsy syndromes. About 320 participants will receive either LP352 or a placebo, and rese…

This study tests an investigational drug called relutrigine in 160 children with a severe form of epilepsy called developmental and epileptic encephalopathy (DEE). The goal is to see if the drug can safely reduce monthly seizure frequency compared to a placebo. After the initial …

This study tests whether a team of a psychologist, speech therapist, and motor therapist can help children aged 2-7 with neurodevelopmental disorders eat more foods and have fewer mealtime struggles. 24 children will be split into two groups: one gets the team therapy, the other …

This study tests a new approach called ENGAGE, where children with disabilities (like autism or cerebral palsy) help set their own therapy goals. About 96 kids aged 5-12 and their therapists will be split into two groups: one using ENGAGE and the other using usual therapy. Resear…

This study tests whether a speech therapy that involves parents can improve early social and communication skills in children aged 6 months to 5 years with neurodevelopmental disabilities. One group gets the parent-focused therapy, while the other gets standard speech therapy. Re…

This study follows 450 babies born with serious heart defects to find early signs of developmental delays by 6 months of age. Researchers want to understand why over half of these children face learning, thinking, or behavior challenges later in life. The goal is to identify risk…

This study investigates how rehearsal (repeating information) and sleep help solidify memories in people with epilepsy. Participants learn object-location pairs, with some pairs rehearsed and others not, and their memory is tested after a short delay and again after 12 hours—eith…

This study aims to learn more about childhood-onset behavioral, psychiatric, and developmental disorders by observing people of all ages who have these conditions, along with their family members. Researchers will collect medical histories, perform psychiatric assessments, and ma…

This study looks at how the brain responds to sensory inputs like sight and sound in 200 children and adults, some with neurodevelopmental disorders (NDD) and some without. Participants will have EEG recordings during sensory tasks, complete behavioral tests, and practice percept…

This study aims to learn how sleep changes as children's brains grow, by collecting sleep and development data from healthy children and those with conditions like autism or ADHD. About 244 children ages 6 months to 8 years will have overnight sleep studies, developmental tests, …

This study looks at medical records of 1000 children with conditions like autism, epilepsy, and Down syndrome to find common biological patterns. Researchers want to understand what causes these disorders and how children respond to treatments. The goal is to improve diagnosis an…

This study looks at ways to help families show up for their scheduled appointments at clinics for autism and other neurodevelopmental disorders. Researchers will test different types of reminder messages and see if having a patient navigator call high-risk families makes a differ…

This study tracks children and adults with genetic developmental and epileptic encephalopathy (DEE) over time. It does not test any treatment but collects information on development, seizures, and quality of life through in-person visits, virtual visits, or online surveys. The go…

This study observes 100 people with rare genetic neurodevelopmental disorders like Baker Gordon Syndrome and Syt-1 disorder. Researchers will track symptoms, collect genetic and imaging data, and create cell models to better understand these conditions. The goal is to improve dia…

This study follows 1,000 people who have certain genetic changes (hnRNP and others) that may cause developmental delays, autism, seizures, or muscle problems. Researchers collect medical records, school reports, and questionnaires to see how these gene variants affect behavior, t…

This study uses powerful MRI scanners to look at the brains and spinal cords of 700 people, including healthy volunteers and those with conditions like multiple sclerosis, Alzheimer's, and Parkinson's. The goal is to understand why some brains stay healthy while others decline. R…

This study tests whether a child-focused goal-setting method called ENGAGE helps children with neurodevelopmental disabilities do better in therapy. About 96 kids aged 5-12 and their therapists will be split into two groups: one using ENGAGE and one using usual care. Researchers …