Inreplacement and augmentation therapies the missing factors are supplemented asexogenous preparations obtained under strictly controlled conditions andvalidated in terms of efficacy and safety. Plasma-derived products, whichtraditionally served as the basis of protein replacement therapy, althoughstill used, are being superseded by recombinant engineered proteins that areeasier to purify and are more stable and safe.

            Replacementtherapies are particularly useful in haemophilia, a chronic conditioncharacterized by the intrinsic inability of the blood to clot, caused by thelack or insufficient levels of coagulation factors like Factor VIII (FVIII), FactorIX (Factor FIX), Factor V (Factor FV) and Factor VII (Factor FVII).

            Incollaboration with biopharmaceutical companies, we are currently involved inresearch and development projects aiming at the development of recombinant andplasma-derived proteins and immunoglobulin concentrates (IVIG). Plasma-derivedconcentrates of IVIG are used as anti-inflammatory, anti-angiogenic andimmune-modulators [1,2]. Recombinant and plasma-derived preparations ofcoagulation factors are destined at the human use in haemophilia A and Bpatients [ 3 ]. Inone such project we contribute at the realization of Factor V concentratesderived from plasma preparations, supporting all steps of protein enrichmentfrom plasma fractions, and performing the structural and functional characterizationof intermediate and final products destined to clinical trials. Factor V hasthe orphan drug designation, therefore new products have a strong impact onboth company’s strategic assets and on haemophiliac patient wellness.

            Asecond project is focused on the generation of recombinant lots of Factor VIIobtained in mammalian cell of human origin (HEK293 strains). Recombinantproteins from human cells are strategically important since they bearpost-translational modifications closer in structure and compositions to thenatural ones, thus strongly reducing the risk of immune reactions anddevelopment of inhibiting antibodies. The market of Factor VII is currentlyestimated to be around 200 mln euros and novel and safer products may representa breakthrough in the field of haemophilia.