News

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,…

Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…

Data from an ongoing Phase 2a clinical trial showed that Tesomet (tesofensine/metoprolol) is safe and well-tolerated by adolescents with Prader-Willi syndrome (PWS). Eight of the nine adolescents included in the trial have enrolled in an open-label extension (OE) study, where they will proceed with Tesomet treatment for an additional…

The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…

About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…

A low-intensity training program improved hand function in adults with Prader-Willi syndrome (PWS), according to results of a pilot study in six patients. The research, “Hand strength and dexterity in patients with Prader-Willi syndrome: a pilot intervention study,” was published in the Journal of International Medical…

With careful multidisciplinary evaluation and psychosocial support, adolescents with Prader-Willi syndrome (PWS) with severe obesity can undergo bariatric surgery with successful results, a case report suggests. The study, “Laparoscopic sleeve gastrectomy in an adolescent with Prader-Willi syndrome: psychosocial implications,” was published in the journal Nutrition. PWS is the most…

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…