Congenital nervous system 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 whether tesamorelin (Egrifta), a daily injection that boosts growth hormone, can improve body composition in people with HIV who have excess belly fat (lipodystrophy). Six participants received the drug for up to 12 months, with researchers measuring liver fa…

This study tested a drug called vatiquinone in 68 people with mitochondrial disease and epilepsy that doesn't respond to standard treatments. Participants were randomly assigned to receive either vatiquinone or a placebo for 24 weeks to see if the drug could reduce the number of …

This study tested whether anti-VEGF injections into the eye could help treat Coats disease, a rare condition that causes abnormal blood vessels and fluid buildup in the retina, potentially leading to blindness. The trial included 18 people with early-stage Coats disease who had n…

This study tested a device called the SPIRION Laryngeal Pacemaker in 10 people with bilateral vocal cord paralysis who had prior vocal fold surgery. The device is implanted to help open the vocal cords during breathing. Researchers checked if it was safe and if it improved breath…

This study tested a new oral drink (GS3-007a) to diagnose adult growth hormone deficiency (AGHD). It compared the drink to the standard insulin tolerance test in 120 adults suspected of having AGHD and healthy volunteers. The goal was to see if the oral test works as well as the …

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 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…

This study followed 7 people with Mucolipidosis Type IV (MLIV) to learn how the disease naturally progresses. Researchers used tests like neuropsychological exams, blood and urine tests, and brain MRIs to find better ways to measure the disease. The goal was to improve future cli…