Inspired by the HAE Community, committed to helping make an impact
Last week on HAE Day, we joined the community and HAEi in the effort to raise awareness of HAE.
The first report of the hereditary form of angioedema was published almost 140 years ago by Sir William Osler. It took 75 years, until 1963, for the biochemical basis of Hereditary Angioedema (HAE) to be elucidated. Since then, the resulting deficiencies of C1-inhibitor (C1-INH) in these individuals has been associated with almost 750 variations in the SERPING1 gene.
These variations, and the C1-INH deficiencies, can lead to recurrent attacks of severe swelling in different areas of the body, including the hands, feet, stomach, face, and throat. These unpredictable attacks, lasting from 2 to 5 days, can be painful and potentially life-threatening if swelling occurs in the airways. Even with the introduction of prophylactic and on-demand therapies, the unpredictable nature of HAE is still burdensome. Approximately 1 out of 50,000 people in the U.S. are diagnosed with HAE and the fear of attacks can lead to increased stress and anxiety.
While it took the better part of a century to understand the causes of HAE and develop the first approved therapies, scientific progress has accelerated over the last couple decades and we are now investigating gene therapies that will correct the deficiency in C1-INH that causes the disease in most individuals.
We have made the commitment to leverage our experiences in researching and manufacturing gene therapies to continue exploring treatment options that prioritize the unmet needs of individuals living with HAE. We have been gratified by the receptivity and enthusiasm that both investigators and their potential patients have expressed regarding this new treatment approach. Through partnerships with HAE Advocacy Groups, we look forward to better understanding the needs of the community and how our research into gene therapy could help address and impact these individuals.
The theme for HAE Day 2022 is “Stepping Up for the Global HAE Movement.” BioMarin is proud to step up and support the global HAE movement. To learn more about HAE and how you can get involved, please visit: https://haeday.org/about-hae-day/.
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The contents of this post were first presented at a poster talk during the annual scientific meeting of the American College of Allergy, Asthma & Immunology’s November 2022 symposium. Hereditary angioedema (HAE) is a genetic disorder that results in unpredictable episodes of severe swelling and can be life threatening. The swelling can affect different parts […]
By interrogating the human genome, we’ve designed therapies that address the root cause of genetic disease. That’s a guiding principle for how we approach our research at BioMarin, and nowhere is that more true than in our work researching gene therapy. As part of our commitment to expanding our technical expertise, we’re looking into many […]