News

The ongoing DESTINY PWS Phase 3 trial is halfway to its target enrollment of patients with Prader-Willi syndrome (PWS) to evaluate the impact of once-daily treatment with diazoxide choline controlled-release (DCCR) tablets. Importantly, more than 90% of the patients who have completed the study so far have chosen to…

There is a wide range of long-term testicular function and cell-level appearance in males with Prader-Willi syndrome (PWS), a new study shows. The study, “Gonadal function and testicular histology in males with Prader‐Willi syndrome,” was published in the journal Endocrinology, Diabetes, & Metabolism. It is quite common…

Two organizations that advocate for people with Prader-Willi syndrome have teamed up with Boston-based Zafgen to conduct an unprecedented natural history study of the rare neurodevelopmental disorder. PATH for PWS is supported by both the Foundation for Prader-Willi Research (FPWR), headquartered in Walnut, California, and the…

Treatment with once daily guanfacine extended-release tablets — used to treat attention deficit hyperactivity disorder (ADHD) — may help manage behavioral symptoms, such as aggression and self-injurious behavior, associated with Prader-Willi syndrome (PWS). The findings were reported in the study “Guanfacine Extended Release for…

A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…

A new study suggests that people with Prader-Willi syndrome (PWS) who are treated with growth hormone as children do not have growth hormone deficiency as young adults. The study, “Prevalence of growth hormone (GH) deficiency in previously GH-treated young adults with Prader-Willi syndrome,” was published in the…

Growth hormone treatment in children younger than 2 with Prader-Willi syndrome (PWS) is safe, reduces body fat, and is linked with earlier ability to walk, a new study reports. The study, “Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective…

Overweight or obese Prader-Willi syndrome (PWS) patients are more likely to have gut problems and take medicines for gastrointestinal illnesses, a study has found. The study also showed that surgery to treat gastrointestinal problems is less frequent in overweight patients, but there was no link between how much patients weighted…

It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…

Pitolisant, an investigational anti-sleepiness therapy in the U.S., may help reduce daytime sleepiness and improve cognitive function in children with Prader-Willi syndrome (PWS), a case series suggests. The study, “Cognitive Improvements in Children with Prader-Willi Syndrome Following Pitolisant Treatment — Patient Reports,” was published in the Journal of…