The White Paper ‘Pediatric screening for type 1 diabetes and celiac disease’, presented today in the Sala Giacomo Matteotti of the Chamber of Deputies on the initiative of the Vice President of the Chamber Giorgio Mulè, is the result of collaboration between experts in health, pediatric endocrinology, diabetology and representatives of patient associations. The document, promoted in accordance with Law no. 130/2023, approved unanimously by Parliament exactly one year ago – as stated in a note – contains 16 recommendations aimed at developing an effective organizational model for the management of screening at a national level. Among these, the importance of the active involvement of family and hospital pediatricians for continuous support to families, the creation of a network of qualified regional laboratories for uniform analysis of samples and the establishment of specialist teams in regional centers for integrated assistance to diagnosed children is highlighted.
The White Paper is part of the Diabetes Type 1 Vision of Screening (D1VE) project, created by Sanofi in collaboration with Utopia, which aims to promote constructive dialogue between all the actors involved in the implementation of the law approved last fall, which places Italy as the first country in the world to introduce a national screening program regulated by a state law, focused on early diagnosis in pediatric age.
“The first data on the national screening program to detect genetic predisposition to type 1 diabetes and celiac disease – says Mulè – confirm the extraordinary and essential importance of law 130 approved exactly one year ago by Parliament. The surveys carried out on a sample basis in 4 regions, which will be the basis for starting screening on a national basis, say beyond any reasonable doubt that, thanks to screening, numerous cases have been intercepted that would otherwise have remained unknown, with probably serious or very serious consequences for those involved. This is confirmation of the validity of a first-in-the-world initiative that places our country at the forefront of prevention activities for two increasingly widespread diseases in the pediatric population. Thanks to the work of the Istituto Superiore di Sanità, in collaboration with the Ministry of Health, pediatricians and patient associations, this first fundamental step has been reached. We are on the right path, now we will continue to work with the same determination to reach new goals”.
With an investment of 3.85 million euros per year for the two-year period 2024-2025 and 2.85 million euros per year starting from 2026 – the note recalls – the multi-year screening program in pediatric age is of crucial importance. Not only does it prevent chronic diseases that are still incurable, such as type 1 diabetes, but it also allows for timely diagnosis of growing pathologies such as celiac disease, before clinical symptoms appear. The main objective is to avoid complications related to a late diagnosis, significantly improving the quality of life of young patients and their families. The program aims to reduce the risk of diabetic ketoacidosis – often the first clinical manifestation of type 1 diabetes – and to diagnose celiac disease at an early stage, ensuring immediate treatment to avoid complications such as growth delays and delayed puberty.
Before the nationwide adoption, a preparatory study called D1Ce Screen was conducted, promoted by the ISS in collaboration with the Ministry of Health, which involved 4 Italian regions – Lombardy, Marche, Campania and Sardinia – to test the feasibility of the program, evaluate its costs and analyze the benefits of systematic screening on the entire pediatric population. During this phase, private pediatricians played a fundamental role, recruiting on a voluntary basis children aged between 2, 6 and 10 years to undergo a capillary blood sample, intended to determine the autoantibodies specific for type 1 diabetes and celiac disease. To date, 3,819 records have been entered into the system and the results obtained have highlighted a high participation of families, a sign of a strong awareness of the importance of an early diagnosis.
“The development of new therapies and the possibility of early screening – observes Raffaella Buzzetti, president-elect of the Italian Society of Diabetes (SID) – are profoundly transforming the management of type 1 diabetes, and teplizumab represents one of the most significant innovations in this context. All this opens up completely new scenarios for prevention, offering an extraordinary opportunity to intervene before diabetes manifests clinically. Alongside innovative therapies such as teplizumab, early screening also plays a crucial role: identifying individuals at risk allows us to personalize therapeutic interventions, anticipating complications and improving the quality of life of people with type 1 diabetes. As president-elect of SID, I am convinced that our scientific community will play a leading role in bringing these innovations into daily clinical practice, integrating tools and therapies that until a few years ago were only hypothetical and expanding the role of the diabetologist who, from a simple manager of the disease, will become a promoter of prevention strategies”.
Less known than type 2, type 1 diabetes is a still incurable autoimmune disease, caused by the destruction of the beta cells of the pancreatic islets responsible for producing insulin. In Italy, this pathology affects approximately 300 thousand people and in 2021 there were 26.7 new cases per 100 thousand children, of which 43.2% with diabetic ketoacidosis onset, a potentially fatal complication if not diagnosed promptly. Celiac disease, another chronic autoimmune disease, is also very common in Italy, with over 200 thousand people affected. Although they are distinct pathologies, type 1 diabetes and celiac disease share many common elements, such as autoimmune mechanisms and a genetic predisposition associated with polymorphisms of the Hla (Human Leukocyte Antigens) complex. Up to 5% of patients may suffer from both conditions, making clinical management more complex and expensive.
This clinical picture at a national level further underlines the importance of proceeding with a structured prevention program starting from the very young. Pediatric screening for type 1 diabetes and celiac disease has already attracted the attention of the main international scientific institutions and the most prestigious journals, such as ‘The Lancet’ and ‘Science’. The introduction of such a complex and legally regulated program is unprecedented and places Italy in a position of absolute vanguard in health prevention. The next steps include the adoption of the program throughout the country, with a constant commitment to guarantee maximum participation and to monitor the results, in order to make any improvements.
“Law no. 130/2023 has made Italy a leading country in equipping itself with the screening tool and this should be a source of great pride for us – says Alessandro Crevani, General Manager Business Unit General Medicines Italy & Malta, Sanofi – This project has favored the meeting and close and synergic collaboration of the main players involved in the implementation phase of the law, who have systematized their great skills to achieve a common goal: to make scientific progress, such as T1D and celiac disease screening, accessible to all families in our country. It is also a significant milestone for our company, which has placed immunology at the center of its research and development strategy, leveraging the expertise and vast knowledge of the immune system to understand and treat diseases where it is no longer in balance, such as type 1 diabetes. At Sanofi, we have a history deeply linked to diabetes and we work every day to change the course of this pathology. Since July last year, we have in fact established an area dedicated to immunodiabetology, with the ambitious goal of radically transforming the treatment of type 1 diabetes in the future, delaying its onset and with the ambition given to us by our pipeline of one day preventing it altogether”.
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