Genetic developmental and epileptic encephalopathy

This study tests whether clemizole HCl (EPX-100) can safely reduce seizures when added to current treatments for Lennox-Gastaut syndrome, a severe form of epilepsy. About 260 children and adults aged 2 to 55 will receive either the drug or a placebo. The main goal is to measure c…

This Phase 3 study tests a drug called zorevunersen in 170 children aged 2 to 17 with Dravet syndrome, a severe form of epilepsy. The drug is given as an injection into the spine and compared to a sham procedure. The goal is to see if it reduces seizures and improves daily living…

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 EPX-100 (clemizole) in 150 children and adults with Dravet syndrome, a severe form of epilepsy. The goal is to see if adding EPX-100 to current treatments can safely reduce the number of motor seizures. Participants will be randomly as…

This early-stage trial tests a gene therapy called RC001 in children aged 2 to 18 with Dravet syndrome, a severe form of epilepsy caused by a genetic mutation. The therapy is given as a single injection into the spinal fluid. The main goal is to check safety and how the body proc…

This study tests a gene therapy called ETX101 for children with Dravet syndrome, a severe form of epilepsy caused by a genetic change. The treatment uses a harmless virus to deliver a working copy of the gene to help control seizures. The trial includes infants and children up to…

This study tests a new medicine called ION337 in children aged 2 to 12 with Dravet syndrome, a severe form of epilepsy. The main goal is to see if the drug is safe and tolerable when given as a spinal injection. Researchers will also measure how the drug moves through the body an…

This study tests an experimental drug called ABS-1230 in children and young adults (ages 1 month to under 22 years) with a rare epilepsy caused by changes in the KCNT1 gene. The goal is to see if the drug is safe and can reduce the number of seizures compared to a placebo. Partic…

This study tests whether the drug LP352 can safely reduce seizures in children and adults with Dravet syndrome, a severe form of epilepsy. About 160 participants will receive either LP352 or a placebo, and researchers will track changes in seizure frequency over several months. T…

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 a new medicine (S230815) for children aged 2-12 with a rare, severe epilepsy caused by changes in the KCNT1 gene. The goal is to see if the drug is safe and can help control seizures. About 20 children will take part, receiving the drug through a spinal injection…

This study tests a medicine called elsunersen in 40 children with a rare, severe form of epilepsy caused by changes in the SCN2A gene. The goal is to see if the drug can safely reduce how often seizures happen over 24 weeks. Children must have started having seizures before 3 mon…

This study is testing the safety of fenfluramine, a drug already approved for children 2 and older with Dravet syndrome, in younger children aged 12 to 23 months. Dravet syndrome is a severe genetic epilepsy that starts in the first year of life. The study will enroll 5 children …

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 deep brain stimulation (DBS) can safely reduce seizures in children aged 5-14 with Lennox-Gastaut syndrome, a severe form of epilepsy. The trial uses a special device called Picostim to send electrical pulses to the brain. Researchers will track seizure f…

This study tests an experimental drug called ASO-GNAO1 (Tianasen) in 5 children aged 1 to 14 with a specific GNAO1 gene mutation that causes severe epilepsy and movement problems. The drug is given via spinal injections over 12 months to see if it can reduce seizures and improve …

This early-phase study tests whether a ketogenic (high-fat) diet can prevent epileptic spasms in infants with genetic epilepsy. Ten babies under 9 months old will receive the diet and be monitored with regular EEGs. The goal is to see if this approach is safe and feasible, potent…

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 uses PET and MRI scans to look at serotonin pathways in the brainstem of adults with Dravet syndrome, a severe form of epilepsy. Researchers want to see if these pathways are different in Dravet patients compared to those with other drug-resistant epilepsy and healthy …

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 follows 1,000 children and teens with rare epilepsies (like West and Dravet syndromes) to see how different treatments affect their seizures and thinking skills. Researchers will compare care across hospitals to find what works best. The goal is to give families cleare…

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 follows 120 people with STXBP1-related disorders, a rare genetic condition causing severe developmental delays and seizures. Researchers aim to track how the disease changes over time and identify the best ways to measure improvement. This work will help design future …

This study follows 50 children and young adults with Dravet syndrome caused by SCN1A gene mutations over four years. Researchers will use standard tests to measure changes in thinking, movement, and daily skills. They will also look for chemical markers in the blood that might re…

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 early-stage trial is testing a new drug called ABS-1230 in 74 healthy adults to see if it is safe and how the body processes it. The drug is being developed for a rare type of epilepsy caused by changes in the KCNT1 gene. Participants will receive either the drug or a placeb…

This study is creating a registry of 200 patients with a rare, severe epilepsy that starts in the first month of life, often linked to a mutation in the KCNQ2 gene. Researchers will collect data on seizures, brain activity, development, and long-term outcomes through questionnair…

This study is observing 600 people of any age with STXBP1 or SYNGAP1 gene mutations to better understand how these disorders affect development, seizures, and quality of life. No treatment is given; instead, researchers will collect data from routine clinical assessments over tim…

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 …

This study aims to learn more about rare disorders that affect how the body processes chemicals called pyrimidines and purines. These disorders can cause problems in the brain, blood, kidneys, and immune system, ranging from mild to life-threatening. Researchers will compare test…