Kedrion has received orphan drug designation from the European Medicines Agency for its investigational therapy for congenital aceruloplasminemia, a rare inherited disorder that disrupts iron metabolism. The decision positions the company to progress a plasma-derived treatment for a condition with no approved therapeutic options in Europe.

It is caused by mutations in the CP gene, which reduce or eliminate production of ceruloplasmin, a protein essential for iron transport. Without this protein, iron accumulates in the brain, liver and pancreas. Patients often develop progressive neurological symptoms, diabetes, anaemia and retinal degeneration. Because the condition is ultra-rare and frequently misdiagnosed, many patients face long delays before receiving specialist care.

Kedrion’s approach centres on recovAceruloplasminemia ering ceruloplasmin from unused plasma fractionation intermediates. The company says this strategy makes use of materials that would otherwise be discarded, supporting supply sustainability while expanding the potential for plasma-derived innovation. The same platform is part of a broader research programme supported by the Italian Ministry for Enterprises and Made in Italy through the Natural project, which is focused on developing therapies from underused plasma intermediates.

Andrea Caricasole, chief R&D and innovation officer at Kedrion, said: “This designation from EMA, following the recent orphan drug designation granted by the FDA, is a further validation of our science-driven approach to rare and ultra-rare disease innovation. By unlocking the therapeutic potential of this protein, we aim to address Aceruloplasminemia, a devastating ultra-rare and neurodegenerative condition that lacks effective options. For patients of this orphan disease, who currently do not have an approved drug, this milestone represents a concrete step forward in the future availability of a new therapy. Our work demonstrates how advanced research and sustainable practices can converge to deliver solutions that matter.”

Recent scientific publications have helped clarify the therapeutic potential of ceruloplasmin. Research published in Nature Communications Biology in 2024 showed that ceruloplasmin purified from unused intermediates could correct iron dysregulation in preclinical models. A 2025 study in Lancet eBioMedicine characterised missense variants of the ceruloplasmin gene and estimated the real-world prevalence of aceruloplasminemia, highlighting the need for earlier diagnosis and targeted therapeutic development.

The EMA designation provides Kedrion with regulatory incentives intended to accelerate development, including protocol assistance and potential market exclusivity upon approval. The company plans to move the therapy towards clinical development in Europe with the aim of improving access for patients who currently rely on supportive management rather than disease-modifying treatment.

Kedrion’s next steps will focus on preparing the therapy for first-in-human studies, supported by ongoing collaborations with academic and clinical partners who have contributed to research on the biology and prevalence of aceruloplasminemia.