Developmental and epileptic encephalopathy, 8

This study tested two different chemotherapy drugs (Treosulfan and Busulfan) given before a stem cell transplant in 106 children with serious non-cancer diseases like immune disorders, metabolic diseases, blood disorders, and bone marrow failure. The goal was to see which drug le…

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 two new technologies—optical genome mapping and long-read DNA sequencing—against standard chromosome tests in 350 people with infertility, intellectual disability, birth defects, or miscarriage. The goal was to see if these newer methods can find more chromosome…

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 a new method called global metabolomic profiling to diagnose inborn errors of metabolism, a group of rare genetic disorders. Researchers compared this approach to traditional testing in 240 participants. The goal was to see if the new method could more accuratel…

This study tested a special spatula designed to help dentists examine the teeth of people with mental disabilities who have behavioral issues. The goal was to see if the spatula makes it easier and safer to look inside the mouth. Two hundred participants were included, and the st…

This pilot study tested a community-based group programme called 'Encompass' for parents of children under 5 with complex neurodisability. Fifteen parents in East London attended ten group sessions over six months. The study aimed to see if the programme was feasible and acceptab…

This study tested a new card game called 'Wai Ji Match Fun' designed for adults with mild to moderate intellectual disabilities. 60 participants played the game in weekly group sessions for 8 weeks. Researchers measured how feasible and acceptable the game was, and whether it imp…

This study looked at whether a 5-week parenting training program could improve the quality of life and parenting skills for parents of children with intellectual disabilities. 141 parents from 11 special schools took part, with 71 receiving the training and 70 in a control group.…

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 completed study from the National Institute of Neurological Disorders and Stroke aimed to better understand how the brain controls movement and what goes wrong in movement disorders like Parkinson's disease, Tourette's syndrome, and dystonia. Over 1,200 adults—both patients …

This study created a registry of medical records from women with inborn errors of metabolism—rare conditions that affect how the body turns food into energy. Researchers collected data from past or current pregnancies and followed babies for one year after birth. The goal was to …

This completed study looked at how the social networks of caregivers affect their stress and health when caring for someone with an inherited disease. Researchers surveyed over 680 participants, including family members and formal caregivers, to understand caregiving burden and s…

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 how many girls and young women aged 11 to 20 with chronic diseases (like diabetes or immune conditions) got the HPV vaccine, compared to those without chronic illness. Researchers reviewed records of 223 participants from a hospital in France. The goal was to…

This study tested a wrist-worn device called the Personal KinetiGraph (PKG) to see if it can accurately measure movement problems in people with Parkinson's disease. Nineteen participants wore the device while researchers compared its readings to standard clinical tests and video…

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 …