Mendelian neurodevelopmental disorder

This trial tests whether a gradual dosing schedule of cannabidiol oral solution (CBD-OS) can help reduce seizures in adults with Lennox-Gastaut syndrome, a severe form of epilepsy. Participants will take CBD oil alongside their usual seizure medications. The study measures how ma…

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 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 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 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 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 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 pilot study tests a therapy protocol based on cognitive-occupational principles (CO-OP) for children and adolescents aged 10-21 with mild to moderate intellectual disability. The intervention involves weekly 45-minute sessions over 12-15 weeks, delivered by occupational ther…

This study adapts a psychosocial support program called Caregiver Speaks for parents of children with Rett syndrome. Delivered through a private Facebook group over six weeks, the program aims to reduce caregiver stress and improve well-being. Researchers will test whether the ap…

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…

Researchers are testing whether blood samples can reveal brain damage and inflammation in people with Dravet syndrome, a severe form of epilepsy that also affects development. The study compares blood markers from 60 people with Dravet syndrome to 30 healthy controls, and follows…

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 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 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 …