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…

Ascendis Pharma is planning to initiate clinical studies to evaluate the potential of its investigational therapy TransCon PTH in adult patients with hypoparathyroidism. The company has submitted an investigational new drug (IND) application with the U.S. Food and Drug Administration (FDA) to start the PaTH Forward Phase 2…

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…

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 team of Chinese researchers is conducting a clinical trial to test a new parathyroid auto-transplantation site for patients with hypoparathyroidism. The study protocol was published in an article, “Parathyroid autotransplantation at a novel site for better evaluation of the grafted gland function: study protocol for a prospective, randomized…

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…

Analysis of hypoparathyroidism symptom diaries is an appropriate measure of disease symptoms and how they affect patients’ quality of life, a study shows. The research article, “Psychometric evaluation of the hypoparathyroidism symptom diary,” was published in Dove Press. Hypoparathyroidism symptom burden is…

  A meticulous surgical technique based on parathyroid autotransplantation, and not vitamin D supplementation, is more efficient to preserve parathyroid function and avoid postoperative hypoparathyroidism following thyroid surgery, a study shows. The study, “Can preoperative vitamin D deficiency predict postoperative hypoparathyroidism following thyroid surgery?…