Mendelian neurodevelopmental disorder

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 Phase 2 trial tests whether umbilical cord stem cells can safely improve movement and coordination in people with spinocerebellar ataxia (types 1, 2, 3, and 6). Forty-five participants will receive the cells through an IV and a spinal injection. The main goal is to see if sy…

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 a custom-made drug called an antisense oligonucleotide (ASO) designed for one person with Schuurs-Hoeijmakers syndrome, a rare genetic condition. The drug aims to correct a specific genetic mutation to improve communication and motor skills. Only one participant …

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 sending text messages or voice call reminders with helpful behavior change tips can improve how many babies get their full set of vaccines on time. About 7,800 caregivers of newborns in Bangladesh will be split into three groups: one gets no reminders, on…

This Phase 3 trial tests whether fenfluramine (Fintepla) can reduce behavioral and emotional symptoms in people with Rett syndrome. About 200 participants will receive either the drug or a placebo for 14 weeks. The study measures changes in behavior, sleep, and overall condition …

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 electroacupuncture (mild electrical pulses through thin needles) can help patients whose stomachs stop working properly after surgery for digestive tract tumors. Seventy-six adults who had such surgery and developed gastroparesis (stomach paralysis) will …

This study tests an experimental drug called BMB-101 in 16 adults with Prader-Willi syndrome who struggle with severe, constant hunger. The trial is double-blind and placebo-controlled, meaning some participants get the drug and some get a dummy treatment, and neither they nor th…

This study tests a cannabis plant extract called NTI164, which has very low THC (the compound that causes a high), in 40 females aged 4-25 with Rett syndrome, a rare genetic condition causing severe physical and mental challenges. Participants will receive either NTI164 or a plac…

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 looks at whether a quick, non-invasive breathing test called impulse oscillometry (IOS) can help doctors find the right pressure settings for sleep apnea machines. Currently, patients often need an overnight sleep study to determine the correct pressure. The study will…

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 looks at the teeth, mouth, and face health of 25 people with Mowat-Wilson syndrome, a rare genetic condition. Researchers will check for cavities, gum disease, and facial features, and ask about quality of life. No treatment is given—the goal is to gather information t…

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 …