News

Harmony Biosciences has kicked off a Phase 2 clinical trial to evaluate the safety and effectiveness of pitolisant to treat excessive daytime sleepiness in people with Prader-Willi syndrome, ages 6 to 65. The study (NCT04257929) is expected to start enrolling participants soon, the company said in a…

Beginning on Feb. 29, Rare Disease Day, chapters from notable scientific books and clinical review articles covering rare disorders will be available free-of-charge from Elsevier. The offer runs through April 30, and aims to supports work by researchers and clinicians into a better understanding of and treatments for rare diseases, as well…

Starting a 501(c)(3) tax-exempt nonprofit isn’t easy, but the National Organization for Rare Disorders gave a few tips for those  looking to begin the complex process in its Feb. 20 webinar.  William Whitman…

An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

Children with Prader-Willi syndrome (PWS) secrete less saliva and more acidic saliva than do their healthy peers. These changes put them at a higher risk of tooth decay (caries) and oral disorders like gingivitis (inflammation of gums), a study reported. Good dental care should be an “essential part” of…

Children and young adults with Prader-Willi syndrome (PWS) have a higher prevalence of psychiatric symptoms than their peers with other genetic disorders associated with intellectual disability (ID), a study shows. The study, “Systematic Review and Meta-Analysis: Mental Health in Children With Neurogenetic Disorders Associated With Intellectual Disability,” was…

Loss of a region on chromosome 15 that involves the SNORD116 gene leads to the development of Prader-Willi syndrome (PWS)-like disease, suggesting that missing the gene is enough to cause the key characteristics of PWS, according to a case study. The study, “Prader–Willi-Like Phenotype Caused by…

Levels of the hormone irisin are elevated in obese people, but not in those with Prader-Willi syndrome (PWS), likely reflecting underlying differences in fat and muscle composition, a new study shows. The study, “Irisin levels in genetic and essential obesity: clues for a potential dual…

The U.S. Food and Drug Administration (FDA), a vast government bureaucracy, employs about 17,500 people and had a budget of $5.7 billion in 2019. Yet even with its enormous resources, the FDA these days relies more and more on patients to…

The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan in Amsterdam’s suburban Zuidas business district, finally opened for business last month — just over two years after the European Union decided to relocate the EMA to the Netherlands in the wake of Brexit.