Mendelian neurodevelopmental disorder

This phase 2 trial tested sodium valproate, a drug used for seizures, in 41 children with Rubinstein-Taybi syndrome (RTS), a rare genetic condition causing intellectual disability. Participants aged 6 to 21 received either the drug or a placebo for one year. Researchers measured …

This phase 3 study looked at what happens when males with MCT8 deficiency (a rare genetic condition affecting thyroid hormone transport) stop taking tiratricol. Twenty participants who had been stable on tiratricol were randomly assigned to either continue the drug or receive a p…

This pilot trial tested whether taking oral zinc every day for 6 months is safe and doable for people with GNAO1 disorders, a rare genetic condition that causes movement problems, seizures, and developmental delays. 13 participants aged 6 months to 30 years took zinc acetate. The…

This completed Phase 3 study tested somatropin, a synthetic growth hormone, in 33 Japanese children and adults with Prader-Willi syndrome. The goal was to see if it safely improves body composition by increasing lean body mass and reducing fat. Participants were divided into thre…

This pilot study tested whether triheptanoin oil, a special fat taken by mouth, can reduce the number of sudden paralytic attacks in children with Alternating Hemiplegia of Childhood (AHC), a rare genetic disorder. Ten participants aged 15 and older with confirmed ATP1A3 mutation…

This study tested the long-term safety of a drug called LP352 (bexicaserin) in 41 people aged 12 to 65 with severe epilepsy syndromes like Dravet or Lennox-Gastaut. Participants took the drug three times daily for up to 52 weeks. The main goal was to check for side effects, while…

This study looked at the long-term safety of a drug called fenfluramine (ZX008) for people with rare seizure disorders like Dravet syndrome and Lennox-Gastaut syndrome. A total of 412 participants who had completed earlier studies took the drug and were monitored for side effects…

This study tested a drug called troriluzole in 141 adults with spinocerebellar ataxia, a rare disease that affects balance and coordination. Participants took either the drug or a placebo daily for 8 weeks. The main goal was to see if troriluzole could improve symptoms like walki…

This completed trial tested a personalized program of physical activity, nutrition guidance, and education for 128 adults with Prader-Willi syndrome. Participants followed the program during a 5-week hospital stay, with the goal of stabilizing or reducing their body mass index (B…

This study tested whether an iPad game (Play.Care) could help diagnose autism spectrum disorder (ASD) in children aged 2.5 to 5 years. The game measures how children move while playing, since movement differences may be early signs of autism. Researchers compared the game's resul…

This study tested whether remote occupational therapy could help children and teens (ages 7-18) with Dravet syndrome improve their daily living skills and satisfaction. 14 families participated in online sessions where a therapist coached the child or parent. The goal was to see …

This early study tested esketamine, a form of ketamine, in 3 girls with Rett syndrome. The goal was to see if weekly infusions over five weeks could improve symptoms and be safe. The trial is complete, but with only 3 participants, it's too small to draw firm conclusions.

This phase 2 study tested whether pitolisant, a drug that promotes wakefulness, can safely reduce excessive daytime sleepiness in people with Prader-Willi syndrome. The trial enrolled 65 participants aged 6 to 65 and compared pitolisant to a placebo over 11 weeks, followed by an …

This study tested whether daily 20-minute warm baths could safely reduce seizures in 8 children (ages 6 months to 6 years) with CDKL5 deficiency, a rare genetic disorder causing hard-to-control seizures. The treatment was added to their usual medications for 12 weeks. The goal wa…

This study tested whether breathing high-flow oxygen for 15 minutes can stop dystonic or plegic attacks in children with Alternating Hemiplegia of Childhood (AHC), a rare genetic disorder causing temporary paralysis and muscle spasms. 24 participants used oxygen or a placebo (med…

This study tested whether oxytocin nasal spray, sometimes called the 'love hormone,' can improve behavior and eating problems in adults with Prader-Willi syndrome. Fifty participants received either oxytocin or a placebo daily or every three days for 28 days. Researchers measured…

This completed trial tested a 5-session group program for siblings and parents of children with chronic illness. The goal was to improve sibling mental health, family communication, and quality of life. 288 families participated, with some receiving the program immediately and ot…

This study investigates why people develop obstructive sleep apnea (OSA) and whether the underlying cause affects how they respond to different treatments. Researchers will test three approaches—CPAP, a sleep medication (eszopiclone), and supplemental oxygen—in adults with OSA. T…

This study looked at whether a special walking test (3D gait analysis) can help identify movement problems in people with rare genetic diseases like Tuberous Sclerosis and STXBP1. About 40 participants aged 6 and older who could walk without help took part. The goal was to see if…

This study looked at how fever changes seizure patterns in people with CDKL5 deficiency disorder, a rare genetic condition that causes hard-to-control seizures. Researchers surveyed parents of 131 affected individuals to collect information on fever history and seizure frequency.…

This study looked at 15 people with a rare genetic condition called DDX3X syndrome, which can cause intellectual disability and sometimes autism. Researchers used interviews, play-based assessments, and genetic tests to better understand the condition. The goal was to describe th…

This study looked at why girls with Rett syndrome often develop weak bones (osteoporosis) at a very young age. Researchers checked bone density, looked at medical history, and measured certain proteins in the blood. The goal was to find risk factors and understand the biological …

This completed study looked at how appetite-regulating hormones change in infants with Prader-Willi syndrome during the first four years of life. Researchers collected blood samples from 215 infants to understand why they switch from poor feeding to severe overeating and obesity.…

This completed study looked at whether children with neurodevelopmental disorders (like mitochondrial disease, cerebral palsy, or developmental delay) have fewer small nerve fibers in their skin, which could cause pain. Researchers took small skin biopsies from 203 children—some …

This study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…

This study tested a set of questions to better identify suicide risk in young people aged 8–17 with autism or other neurodevelopmental disorders. Researchers asked 278 participants and their parents about thoughts of self-harm and understanding of death. The goal was to create a …

This study looked at 25 people with FOXP1 syndrome, a rare genetic condition, to better understand their psychiatric symptoms. Researchers used interviews and questionnaires with families to assess hyperactivity, attention, anxiety, autism traits, and more. The goal is to improve…

This study tested two versions of the seizure medication stiripentol (Diacomit®) in 24 healthy adults: a capsule and a liquid suspension. The goal was to see if the liquid form is absorbed by the body in a similar way to the capsule. If so, it could provide a more convenient opti…

This completed study followed 477 women in Denmark who had a planned cesarean delivery. Researchers used text-message surveys to track pain levels, medication use, and how pain affected daily life over several months. The goal was to better understand how common persistent pain i…