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Inspired by the HAE Community, committed to helping make an impact

Our Motivation | May 24, 2022

Jason Wicklund, PharmD, is the Sr. Director, Core Team Leader for BioMarin Pharmaceuticals. Over his more than 15-year career, he has been deeply involved in clinical research, chairing over 400 in-vitro, translational, and clinical studies, and is consistently recognized for continued innovation in the assessment and generation of long term development and commercialization strategies.

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/.