Author Archives: Marta Figueiredo PhD

New brain-like organoids, or “mini-brains,” that are specific to key regions and derived from patients could serve as models for studies of the underlying neurological and molecular mechanisms of Prader-Willi syndrome (PWS), researchers reported. Notably, the team created arcuate organoids generated from cells of PWS patients, which captured the arcuate…

The Foundation for Prader-Willi Research (FPWR) and the Prader-Willi Syndrome Association (PWSA) in the U.S. have asked the U.S. Food and Drug Administration (FDA) to reconsider its request for an additional clinical trial of diazoxide choline controlled release (DCCR) tablets in patients with Prader-Willi syndrome (PWS). Last month, the…

The COVID-19 pandemic greatly affected the mental health of people with Prader-Willi syndrome (PWS), with worsening of behavioral symptoms such as irritability, temper outbursts, and food‐seeking behaviour, according to results of an online survey conducted by researchers in Germany. These findings are consistent with those of the Foundation…

Adults with Prader-Willi syndrome (PWS) have greater mental rigidity than those with matching intellectual disability, but without the disease, and those with normal intellectual level, according to a study from France. These findings support the presence of PWS-specific mental flexibility deficits, over and above intellectual problems, the researchers said.

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

Tryp Therapeutics announced plans to launch a Phase 2a clinical trial evaluating the potential of its investigational oral candidate TRP-8802 (synthetic psilocybin) at reducing excessive appetite in people with Prader-Willi syndrome (PWS) and other rare disorders characterized by overeating and with high unmet therapeutic needs. The upcoming trial is…

The COVID-19 pandemic — which took a heavy toll on people with Prader-Willi syndrome (PWS) and their families, according to a recent webinar — likely influenced the results of the DESTINY PWS Phase 3 trial that was testing the investigational therapy diazoxide choline controlled release (DCCR) at its…

A remote play-based intervention program improved pretend play skills, cognition, and behavior in children with Prader-Willi syndrome (PWS), a small study shows. The preliminary findings support the validation of this remote approach in larger studies of a patient population with a high unmet need for effective behavioral interventions, researchers said. The…

Growth hormone (GH) therapy initiated at an earlier age and sustained for a longer period results in greater improvements in growth and body composition in children with Prader-Willi syndrome (PWS), according to data from a real-world study. These findings further support the current practice of starting GH treatment as…

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…