News

Even with the coronavirus pandemic ravaging Europe and much of the world, patient advocate Lucia Monaco, PhD, of Italy remains confident that the Paris-based nonprofit she chairs will see the approval of 1,000 new rare disease therapies by 2027. That group, the International Rare Diseases Research Consortium (IRDiRC) — launched…

People with hereditary angioedema (HAE) caused by a specific mutation in the plasminogen gene have several on-demand and preventive treatment options that reduce the severity and frequency of their acute swelling attacks, a study has found. The study, “Treatment of Hereditary Angioedema with the Mutation…

BioCryst Pharmaceuticals presented new results from a Phase 3 clinical trial showing that preventive treatment with oral berotralstat (BCX7353) significantly lowers the frequency and may also lessen the severity of swelling attacks in people with hereditary angioedema (HAE). The findings would have been shared at the…

The U.S. Food and Drug Administration (FDA) has approved a new production facility for Ruconest (conestat alfa), Pharming’s lead therapy for acute attacks in hereditary angioedema (HAE). The Netherlands-based facility also has been approved by the European Medicines Agency (EMA). That means…

The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…

In recognition of Rare Disease Day Feb. 29, Bionews Services launched a social media campaign last month asking patients to describe what makes them rare. Running Feb. 7–29, the #WhatMakesMeRare campaign was aimed at uplifting people with rare diseases by encouraging them to share their stories and perspectives. The…

Mutations in the KCNMA1 gene may predispose certain people to angioedema caused by blood pressure medications, a study suggests. The study, “Genome-wide association study of angioedema induced by angiotensin-converting enzyme inhibitor and angiotensin receptor blocker treatment,” was published in The Pharmacogenomics Journal. Angiotensin-converting enzyme inhibitors…

A new diagnostic test for hereditary angioedema (HAE) can measure the activity of C1-inhibitor (C1-INH) in a drop of dried blood, and may be easy enough to use at point-of-care medical centers. The test was described in Clinica Chimica Acta, in the study “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,…