“In rare diseases Takeda is the protagonist, strongly committed with an already important portfolio at an industrial level, a pipeline and a strategic research direction that focuses heavily on these pathologies. Just think that 50% of the molecules we have in development will be with designation of orphan drug and even more generally in rare diseases”. Thus Andrea De Giorgi, head of the Rare Diseases Business Unit of Takeda Italia, on the sidelines of the presentation of the report of the AstraRicerche Institute with the ‘best practice’ experiences of two regions – Veneto and Tuscany – illustrated today in the context of the second edition of ‘Rare who finds’, an initiative promoted in Rome by Takeda Italia with the patronage of the Italian Society of Pediatrics (Sip), the Italian Anderson-Fabry Association (Aiaf), the Italian Gaucher Association (Aig), the Italian Mucopolysaccharidosis Association (Aimps) and Cometa Asmme .
“We are involved in diseases of a genetic nature – underlines De Giorgi – therefore lysosomal storage diseases, haemophilia, coagulation studies, neuroscience, gastroenterology and oncology, with an investment budget of around 5 billion dollars per year which is considerable within the industry We believe this is our mission from a research standpoint, but we also believe, based on experience, that our proposal should be a more comprehensive work at the internal strategic paths for patients, a work that starts from the diagnosis and arrives at the post-diagnosis for a correct follow-up of the therapeutic part.In Italy we are in the right direction, but we must increasingly create a system with the other interlocutors: institutions, politics, scientific societies, patient associations, to guarantee a uniformity even regionally to the diagnostic and therapeutic approach”.
On the report of the AstraRicerche Institute with the ‘best practice’ experiences of Veneto and Tuscany, De Giorgi underlines: “Takeda has invested together with the partnership of 4 patient associations involved in lysosomal storage diseases in the initiative for two years already, with the contribution of the Italian Society of Pediatrics”. In this edition “we have tackled a very hot topic, namely the extension of newborn screening and the value it can bring to the diagnostic and therapeutic course of these patients. The experiences and data found in the two pilot projects, carried out with the contribution of important clinicians , demonstrate how early diagnosis favored by newborn screening has an important contribution in the development of the disease”. These diseases “tend to be progressive in nature – highlights De Giorgi – therefore being able to identify the onset of symptoms earlier allows for an important and more effective therapeutic path. Avoiding the onset of symptoms allows for a simpler path from the point of view of life expectancy and quality of life”.
“The extension of newborn screening for lysosomal diseases was already stipulated in 2019 from the point of view of the Budget Law, but in fact it has not yet been implemented. We believe – he concludes – that this initiative is able to give value to the importance of having to complete that process”.