Chromosomal disorder

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 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 early-stage study tested a drug called ION269 in adults with Down syndrome who also showed signs of Alzheimer's disease. The goal was to check if the drug was safe and tolerable when injected into the spinal fluid. Only one person took part, and the study was stopped early, …

This study tested a drug called basmisanil in children aged 2 to 14 with Dup15q syndrome, a rare genetic condition that affects development. The goal was to see if the drug could improve daily living skills like communication and movement. The trial was stopped early after enroll…

This study tested a new, non-invasive way to check embryos for chromosome problems before IVF. Instead of taking a cell from the embryo, doctors analyzed the fluid the embryo grew in. The goal was to see if this method could help choose the embryo most likely to lead to a healthy…

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 the drug guanfacine to see if it could reduce hyperactivity and impulsivity in children aged 6 to 12 with Down syndrome. The plan was to give the drug or a placebo for 8 weeks and measure behavior changes. However, the trial was stopped early after only 3 childr…

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…