Mendelian neurodevelopmental disorder

This study looked at the long-term safety of soticlestat when added to standard seizure medicines for people with Dravet syndrome or Lennox-Gastaut syndrome. It included 352 children and adults who had already been in earlier studies. The trial was terminated early, so results ar…

This phase 3 trial tests whether soticlestat can reduce seizures in people with Dravet syndrome or Lennox-Gastaut syndrome who have already used fenfluramine. Participants take soticlestat as tablets or mini-tablets, and researchers measure changes in seizure frequency over the f…

This study looked at the long-term safety of soticlestat, an experimental drug, in children and adults with severe forms of epilepsy like Dravet syndrome and Lennox-Gastaut syndrome. Participants took soticlestat twice a day along with their usual seizure medicines. The study was…

This study tests the long-term safety of a nasal spray called carbetocin for people with Prader-Willi syndrome who experience severe, constant hunger (hyperphagia). About 160 participants who completed a previous study will receive the spray three times daily. The goal is to see …

This study tests whether ARD-101 can safely reduce extreme hunger and food-related behaviors in people with Prader-Willi syndrome over 12 months. About 90 participants who completed a prior study will take the drug daily and visit the clinic regularly. The goal is to improve qual…

This trial tested a single dose of CAP-002 gene therapy in children aged 18 months to 8 years with STXBP1 encephalopathy, a rare genetic brain disorder causing seizures and developmental delays. The study aimed to check safety and whether it could reduce seizures and improve skil…

This study looked at the long-term safety of the drug NBI-921352 for people with a rare genetic seizure disorder called SCN8A-DEE. It was an extension of an earlier study, and participants took the drug alongside their usual seizure medications. The study was stopped early and on…

This study tested the drug fenfluramine (FINTEPLA) in adults with Dravet syndrome whose seizures were not controlled by other medications. The trial was open-label and added fenfluramine to existing treatments. It aimed to see if the drug could reduce monthly seizures by at least…

This study tested an experimental drug called NBI-921352 in people aged 2 to 21 with a rare, severe form of epilepsy caused by a change in the SCN8A gene. The goal was to see if adding this drug to their current seizure medicines could reduce how often they had seizures. The tria…

This study tested whether lorcaserin, when added to current medications, could reduce convulsive seizures in people with Dravet syndrome, a severe form of epilepsy. The trial planned to enroll about 22 participants aged 2 and older, but it was terminated early. The main goal was …

This phase 3 trial tests whether ARD-101 can reduce the intense, constant hunger (hyperphagia) seen in Prader-Willi syndrome. About 90 participants will take either ARD-101 or a placebo daily for 12 weeks. Caregivers will track changes in hunger-related behaviors using a standard…

This study tested whether a cannabis-derived compound called CBDV could safely reduce irritability in children and young adults with Prader-Willi syndrome. Only 6 people enrolled before the study was stopped early. The goal was to see if CBDV helped with mood and behavior problem…

This study tested a cannabidiol (CBD) oral solution in children under 2 years old with tuberous sclerosis complex, Dravet syndrome, or Lennox-Gastaut syndrome who had uncontrolled seizures. The goal was to see if CBD is safe and can reduce seizures. However, the study was termina…

This study aimed to understand why people with autism or schizophrenia sometimes struggle to recognize emotions on faces. Researchers used brain wave recordings (EEG) and eye-tracking to see how participants processed facial expressions. The study included people with autism, sch…

This study aimed to observe how MECP2 duplication syndrome progresses over time by measuring biological markers in spinal fluid and blood, and by tracking changes in development, behavior, and seizures. It enrolled 29 males aged 1 month to 65 years with a confirmed genetic diagno…