News

One year of treatment with Soleno Therapeutics’ investigational oral therapy diazoxide choline controlled release, known as DCCR, significantly reduced excessive appetite and disease-related behaviors in Prader-Willi syndrome (PWS) patients, according to top-line data from an extension study of the DESTINY PWS Phase 3 trial. These trajectories were significantly…

Participation in clinical trials exposes rare disease patients to financial, physical, and emotional pressures, according to the results of a patient focus group series. “Rare disease trial participants are running an endurance race they are highly motivated to complete, but these incremental burdens negatively impact their ability or willingness to…

People with Prader-Willi syndrome (PWS) have smaller pituitary glands than their typically-developing peers, according to data from a small study. The findings also suggest that altered pituitary size is associated with behavioral abnormalities in PWS. Results were published in the journal Biomarkers in Neuropsychiatry, in the study “…

The mean total annual costs of raising a child with Prader-Willi Syndrome (PWS) — an estimate that takes into account services use, impact on parental income, and care arrangements — is more than AU$57,500 (about $42,500) per child, according to an Australian study of four rare disorders that cause…

The National Organization for Rare Disorders, known as NORD, was named an official charity partner of the 2021 TCS New York City Marathon, which will be held Nov. 7 both in-person and online. “Supporting charitable causes and organizations are a long-standing tradition of the TCS New York City…

The National Alliance for Caregiving, in partnership with Global Genes, has issued a free guidebook, available online, that offers resources and support for caregivers of children with rare diseases. “The Circle of Care Guidebook for Caregivers of Children With Rare and/or Serious Illnesses” was designed…

An $11.2-million, five-year grant has been awarded by the Centers of Excellence in Genomic Science of the National Institutes of Health (NIH) to uncover high-resolution details of the entire human genome. This project should help better understand the genome’s structure and function, as well as provide important clues about the…

Vision problems such as lazy eye, farsightedness, and strabismus — when the eyes don’t line up in the same direction — are more common in people with Prader-Willi syndrome (PWS) than among their healthy peers, a study shows. These findings, along with data showing that vision problems may negatively affect…

Children and adults with Prader-Willi syndrome (PWS) are not at higher risk of developing a severe COVID-19 infection, according to results from a survey involving more than 500 patients in France. These findings were particularly surprising in terms of the adult population, which typically has several known risk factors for severe…

Registration is now open for Global Genes‘ 2021 RARE Patient Advocacy Summit. This year’s hybrid event will be livestreamed from California Sept. 27-29, and some seats also are available for attending the event in person in San Diego. “Here you’ll have the opportunity to connect and engage with others…