News

UConn Health and the Foundation for Prader-Willi Research (FPWR) announced the creation of a centralized biobank to provide researchers worldwide with high-quality, validated stem cells for in-depth studies about the causes of PWS and possible treatments. Stem cells can differentiate into other types of cells, such as brain,…

A new blood test called EpiSign may help identify complex and hard-to-diagnose genomic imprinting disorders such as Prader-Willi syndrome (PWS). EpiSign, available in two versions, can diagnose 19 complex disorders. This newly available diagnostic tool, which identifies common DNA modifications, may also help researchers understand the clinical significance of genetic…

Treatment with an Indian cactus extract reduces appetite in a mouse model of Prader-Willi syndrome (PWS) by interfering with a serotonin receptor in the animal’s brain, a study reports. The study, “Caralluma fimbriata extract activity involves the 5‐HT2c receptor in PWS Snord116 deletion mouse model,” was published in the journal …

A compound that could mimic ghrelin hormone activity and trigger its receptor signals could hold therapeutic potential to improve survival of patients with Prader-Willi syndrome (PWS) in early infancy, a mouse study shows. The study, “Ghrelin Receptor Agonist Rescues Excess…

Millendo Therapeutics has launched a Phase 2b/3 clinical trial investigating the safety and efficacy of livoletide (AZP-531) in patients with Prader-Willi syndrome (PWS), the company announced. The rare genetic disease is characterized by hyperphagia (excessive eating) and obesity, caused by abnormal hormonal levels. Livoletide is designed to reduce…

The Data Safety Monitoring Board recommended the continuation of Soleno Therapeutics’ Phase 3 clinical trial evaluating the effects of diazoxide choline controlled release (DCCR) treatment in children and adults with Prader-Willi syndrome (PWS), the company announced. Hyperphagia (excessive eating) is a classic PWS symptom caused by hormonal or…

Preclinical studies on the long-term impact of the investigational therapy ZGN-1258, being developed as a potential therapy for Prader-Willi syndrome (PWS), revealed alarming toxicity events and safety issues, Zafgen, the therapy’s developer, has announced. Based on these negative results, the company has changed its plans for ZGN-1258,…

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bathdissertation, she analyzed Brexit’s long-term impact…

ConSynance Therapeutics, a biotechnology company that has developed two new candidate medicines for Prader-Willi syndrome (PWS), announced that it has joined the PWS Clinical Trial Consortium. The PWS Clinical Trial Consortium was established in 2015 to accelerate clinical trials in PWS by promoting multidisciplinary, pre-competitive, and international collaboration among stakeholders…

With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…