News

Specific epigenetic modifications — chemical marks added to DNA that affect the way genes work — are found in people with Prader–Willi syndrome (PWS), and may affect how the disease manifests, a small study reported. These findings may help in understanding how genes contribute to the disease and open…

A new U.S. initiative called Rare Disease Cures Accelerator–Data and Analytics Platform — dubbed RDCA–DAP — aims to accelerate treatment innovation across rare diseases by sharing existing patient data and promoting the standardization of new data collection. Launched during a virtual workshop in September, the U.S. Food and Drug…

The Prader-Willi Syndrome Association (PWSA) USA has earned a Patients at the Heart award from Harmony Biosciences. Announced Wednesday on World Narcolepsy Day, which takes place every year on Sept. 22, the award was given to the project “Disordered Sleep: A Deep Dive for Parents and Practitioners.”…

Football and science seem to be disparate fields of play at first glance, but the nonprofit Uplifting Athletes is finding common ground by leveraging the popularity of college gridiron games to fund research for rare diseases. Its nearly two dozen chapters — representing college football teams across the nation…

A new research project in Australia is investigating what underlies sleep-disordered breathing — an umbrella term for abnormal breathing patterns during sleep — often seen in children and adults with Prader-Willi syndrome (PWS). The goal, according to the researchers, is to better understand “breathing control stability” in children with…

A newly launched non-profit institute is seeking to advance research, and the development of new therapies, for people with rare diseases — a patient community with some of the largest therapeutic needs, but one that is often left behind. Named the Institute for Life Changing Medicines, the project was…

The first healthy volunteers were dosed in a Phase 1 clinical trial evaluating Inversago Pharma‘s INV-102, a potential therapy for Prader-Willi syndrome (PWS) and other metabolic disorders. According to a company press release, the trial, underway in Canada, started dosing following a “No Objection Letter” from Health Canada.

The U.S. Food and Drug Administration (FDA) is holding a public advisory committee meeting regarding LV-101 (intranasal carbetocin) as a potential treatment of distress behaviors and insatiable hunger in Prader-Willi syndrome (PWS) patients. The Psychopharmacologic Drugs Advisory Committee meeting, to be held virtually Nov. 4 from 10…

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…