News

Compared to their typically developing peers, children with Prader-Willi syndrome show marked differences in the shapes and sizes of many structures in the brain, including some important for regulating hunger, a new study reports. Changes seen in patients were not seen in obese children who didn’t have Prader-Willi, indicating…

Researchers have determined that the role of the chemical messenger oxytocin in Prader-Willi syndrome could be associated with its function in astrocytes, a type of nerve support cell in the brain. By counting the number of oxytocin-producing cells and receptors for the molecule in the brain, brain regions and cell…

A toddler with both Prader-Willi syndrome (PWS) and Moebius syndrome was successfully treated for respiratory distress with a cystic fibrosis medication called dornase alfa and hypertonic saline delivered via the nose. The girl displayed a rare combination of the two congenital diseases — meaning they were present at birth…

A one-time delivery of the brain-derived neurotrophic factor (BDNF) gene into a brain region called the hypothalamus improved metabolism in mice showing some symptoms of Prader-Willi syndrome (PWS), according to a new study. The gene therapy improvements translated into less weight gain and a healthier body composition, which suggests…

Daily treatment with oral pitolisant reduced excessive daytime sleepiness in children and adults with Prader-Willi syndrome (PWS), according to top-line data from a placebo-controlled Phase 2 clinical trial. While the relatively small proof-of-concept study wasn’t powered to detect statistically significant differences, the observed improvements with pitolisant relative to…

Bone health problems such as osteoporosis and scoliosis are common among people with Prader-Willi syndrome, a new study indicates. Its researchers offered several recommendations for caring for bone health in people with Prader-Willi, such as optimizing calcium intake, getting enough physical exercise, and regular screenings for hormone imbalances. The…

The loss of certain genetic material called non-coding RNA might lead to the disruption of genes important for brain development and function in Prader-Willi syndrome (PWS) , a study found. These alterations could underlie the cognitive and behavioral symptoms of the disease,  according to researchers. The study, “…

A randomized withdrawal period in the ongoing open-label extension trial of DCCR (diazoxide choline extended-release tablets) for people with Prader-Willi syndrome (PWS) has been initiated to generate more data about the investigational treatment’s effectiveness. The study, called C602 (NCT03714373), is evaluating the safety and effectiveness of daily…