News

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…

Reduced activity of the Magel2 gene, which is defective in Prader-Willi syndrome (PWS), specifically in nerve cells that supply the brain’s amygdala, lowered the susceptibility to diet-induced weight gain by increasing physical activity. The researchers noted that these unexpected findings from a mouse study may provide a novel therapeutic strategy…

Half of people with Prader-Willi syndrome (PWS) treated with the antipsychotic aripiprazole in a small German study experienced fewer temper outbursts, but daytime sleepiness was a common side effect. The medication did not cause an increase in weight, however, which is a plus considering that people with PWS typically…

An overview of patients with atypical deletions causing Prader-Willi syndrome (PWS) suggests deletions in the SNURF-SNPRN and SNORD-116 genes are crucial for developing major PWS symptoms, a new study reports. The study “Atypical 15q11.2-q13 Deletions and the Prader-Willi Phenotype,” was published in the Journal of Clinical Medicine. PWS…

Cells of adipose tissue, or body fat, may go awry long before weight gain takes off in children with Prader–Willi syndrome (PWS), according to a new study — and a missing cluster of genes called SNORD116 may be the reason why. The findings add information about what’s behind the…