Following the recent celebrations of Rare Disease Day last month, we are proud to announce the publication of a study on Aceruloplasminemia (ACP) in eBioMedicine, a renowned journal from the Lancet Group.
This research, partially supported by Kedrion within the framework of scientific collaboration, has been conducted in partnership with the University of Pisa (Department of Pharmacy), the IRCCS Ospedale San Raffaele (Proteome Biochemistry, COSR-Centre for Omics Sciences), the Humanitas University (Department of Biomedical Sciences), and the IRCCS Humanitas Research Hospital.
The project underscores our commitment to advancing therapeutic solutions for individuals affected by extremely rare conditions who currently lack adequate treatment, and underlines the vital role of industry-academia scientific collaborations in driving forward the development of innovative solutions.
Aceruloplasminemia is a genetic disorder that frequently eludes diagnosis, leaving patients without the necessary therapeutic options. This study enhances the understanding of the genetic factors associated with ACP prevalence and emphasizes the critical need for early diagnosis and intervention.
By improving prevalence estimates, we aim to ensure that individuals affected by this disorder receive the recognition and care they need. “Our commitment to protecting vulnerable populations is not limited to a single day of awareness; it is an ongoing mission” stated Andrea Caricasole, Kedrion Chief Research and Innovation Officer. “This research reflects our dedication to understand the biology and genetics of proteins associated with rare and ultra-rare diseases, to support innovative solutions that can profoundly impact the lives of patients. Collaborating with national and international centers of excellence allows us to leverage collective expertise and address the unique challenges faced by these communities.”
At Kedrion, we believe that every patient deserves protection, advocacy, and access to effective treatments. This study serves as a powerful reminder of our responsibility to champion the needs of those who are often overlooked and to advance therapeutic solutions that can create meaningful change.