Regenxbio is exploring a new hereditary angioedema (HAE) treatment that harnesses viral vectors to deliver an antibody-based gene therapy, the company announced. The treatment will deliver the genetic sequence for an antibody that targets plasma kallikrein, a protein involved in swelling attacks in…
In a new study, researchers provide recommendations for when to consider a diagnosis of hereditary angioedema (HAE) for patients who come to the  emergency room with swelling. The study, “Development of the Hereditary Angioedema Rapid Triage (HAE-RT) Tool,” was published in The Journal of Allergy…
A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…
Plasma-derived C1-INH concentrate is highly effective in the treatment of patients with acquired angioedema due to C1-inhibitor deficiency — acting fast and significantly shortening attack duration, a study found. The findings were presented at the 2019 American Academy of Allergy, Asthma and Immunology (AAAAI) Annual Meeting, in a…
A single dose of Ruconest (conestat alfa) was sufficient to rapidly and safely treat almost 96% of all acute attacks in a group of children with hereditary angioedema (HAE), Phase 2 trial data show. The treatment was approved for acute HAE attacks in adults and adolescents by the…
The challenges Vesna Aleksovska faced when she decided a decade ago to help fellow Macedonians with rare diseases were so daunting, they would have scared off all but the most determined. At that time, few doctors in the developing country of 2 million — now called North Macedonia — had…
It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…
Researchers from the University of Virginia School of Medicine and Inova Health System have received seed grant funding from the Integrated Translational Health Research Institute of Virginia (iTHRIVE) to study a new biomarker for hereditary angioedema (HAE). iTHRIVE is awarding up to $50,000 to early-phase research projects…
A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…
Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…
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