Developmental and epileptic encephalopathy, 35

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 study tests a new type of stem cell transplant for children with primary immune deficiencies or inherited metabolic disorders. The transplant uses stem cells from a half-matched family donor, which are specially processed to remove certain immune cells. The goal is to see if…

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 bone marrow transplant from a family donor for children under 21 with severe non-cancer blood disorders like sickle cell disease, bone marrow failure, or immune problems. The goal is to see if the transplant can replace the diseased cells with healthy donor cel…

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 program offers extra stem cells from a half-matched family donor to patients who are getting a cord blood transplant for serious blood cancers or immune disorders. The goal is to help the bone marrow recover more quickly while the cord blood cells take over permanently. It i…

This study tests whether custom 3D-printed cutlery handles can help people with neurodegenerative diseases eat more independently. 75 patients in rehabilitation care will try handles in different sizes, designed to fit their grip. Researchers will measure changes in eating abilit…

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 aims to better understand and treat people with certain inherited metabolic or genetic disorders. Researchers will use standard medical tests like blood work and imaging to diagnose and care for participants, who may also join other related studies. The goal is to expa…

This study looks at children with suspected or confirmed genetic and metabolic disorders to find new disease-causing gene mutations. Researchers will analyze blood samples for DNA and metabolites, and in some cases take a small skin sample. The goal is to better understand these …

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 at Necker Hospital in Paris is checking how well patients with inherited metabolic diseases follow their daily oral medication routines. About 200 patients (children aged 7 and up, teens, and adults) will fill out a questionnaire during a regular visit. The goal is to …

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 enrolls up to 15,000 children with known or suspected endocrine or metabolic disorders, along with their family members. Researchers will collect medical records, blood, saliva, and other samples to identify genetic changes linked to these conditions. The goal is to be…

This study is creating a large collection of blood, urine, stool, and heart tissue samples from 10,000 people with and without heart or metabolic conditions. The goal is to store these samples along with medical information to speed up future research into what causes these disea…

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 tests a new communication tool called 'Let's Get REAL' that helps children and teens (ages 8-17) and their families talk together about stem cell transplant or cellular therapy decisions. The goal is to see if the tool is easy to use and helpful for families. About 60 …

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 people with brain damage from strokes, tumors, or other conditions to understand why they have specific thinking problems. Researchers will use brain scans and cognitive tests to link brain areas to deficits. The goal is to learn more about how the brain works…

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 gathers medical information from 200 adults with possible nerve, muscle, or autonomic nervous system disorders who are not already in other NIH studies. Participants undergo standard tests like nerve conduction studies, EMG, and physical exams. The data is stored anony…

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 uses MRI scans to look for brain differences in people with metabolic diseases compared to healthy volunteers. Researchers will track changes over time and link them to body fat and other health measures. About 126 adults will take part at Ulm University Hospital. No d…

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 is looking at how people with conditions like schizophrenia, bipolar disorder, depression, and neurological diseases (such as Alzheimer's or stroke) perform on computer-based thinking tests. The goal is to create a detailed map of cognitive strengths and weaknesses acr…

This study looks at whether using a swallow gel or a semi-solid vehicle can help people with neurological conditions swallow pills more easily and safely. Researchers will observe 500 participants, including patients with swallowing disorders and healthy volunteers, as they swall…

This study looks at how often young children (ages 1 to 6) with inherited metabolic diseases develop eating disorders when they are on special diets. Researchers will use a feeding scale to measure eating problems in 200 children. The goal is to understand the link between these …

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…

The SMILE study is tracking 10,000 adults aged 18 and older to see how sarcopenia (age-related muscle loss) and metabolic diseases like diabetes influence overall health and lifespan. Researchers will collect data from medical records, tests, and surveys over time. This is an obs…

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…

This study follows 100 children under 18 who are already on a ketogenic diet for conditions like drug-resistant epilepsy, autism, chronic migraine, or brain tumors. Researchers want to see if the diet supports healthy growth, improves symptoms, and boosts quality of life. The die…