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,…
The U.S. Food and Drug Administration (FDA) agreed to review BioCryst Pharmaceuticals‘ application requesting approval of oral berotralstat as a once-daily treatment to prevent swelling attacks in people with hereditary angioedema (HAE). ByoCryst submitted the new drug application (NDA) to the FDA in December 2019, and the agency…
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…
Ruconest (rhC1INH) is safe and effective as an on-demand therapy to treat acute swelling attacks, and as a short-term prophylaxis to prevent attacks of hereditary angioedema (HAE), a study in Hungary found. Early administration of Ruconest speeds the full resolution of an attack, and repeated use does not…
Bradykinin, a key molecular player involved in swelling attacks in hereditary angioedema patients, does so by signaling through the cyclooxygenase (COX) proteins, which may be targeted with common anti-inflammatory medications such as ibuprofen and diclofenac, a study has found. By uncovering additional molecules participating in…
Intellia Therapeutics announced the first preclinical results supporting a gene therapy candidate for hereditary angioedema (HAE). In animal models, the product markedly and sustainably lowers kallikrein activity to levels of expected therapeutic benefit, anticipated to lessen angioedema attacks in patients. The early data comes on the…
Haegarda, a C1-INH replacement medication by CSL Behring, is now available in the Canadian province of Quebec for the preventive treatment of swelling attacks in adults and adolescents with hereditary angioedema (HAE), the company announced. “The availability of a new treatment option to help health care professionals…
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 provide…
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