ROma, 19 Jun. (askanews)-Alfa-mannosidosis is a rare hereditary disease, with 1-2 cases estimated on one million inhabitants, due to a genetic mutation that causes a pathological accumulation of some macromolecules in the cell, with disorders that may affect various organs. To underline the importance of neonatal screening and an early diagnosis of the alpha-mannosidosis, on the occasion of the national day of the alpha-mannosidosis in Rome, clinical and exponents of the institutions met. The goal of the conference-organized with the unconditional contribution of Chiesi-is to raise awareness and promote knowledge of the disease, the need to work in a multidisciplinary team and a timely treatment to improve the quality of life of people with alpha-mannosidosis and their families.
Giuseppe Limongelli, director of the Coordination Center for Rare Diseases Rare Region of Campania: “It certainly needs early recognition, therefore training within well -structured paths, paths in which the lost in charge is necessarily multidisciplinary things, because it is a systemic pathology. The hope is that these pathologies can also be recognized with a screening at birth”.
People with alpha-mannosidosis today can access specific enzymatic therapy, thanks to which the missing enzyme is reinstated, so as to reduce the accumulation of substances at the lysosomial level. The pathology affects several organs: therefore, a correct taking charge of the patient becomes fundamental by a multidisciplinary team, from childhood to adulthood, with coordination that ensures it therapeutic, welfare, rehabilitation and psychological continuity.
Annalisa Scopinaro, president we combine Italian federation of rare diseases: “When there are therapies that drastically change the course of people’s lives, the diagnosis is absolutely important and that this is early as possible. Where there are characteristics to introduce it to extensive neonatal screening is a civic duty”.
Tackling the problems related to the alpha-mannosidosis, thus underlined the experts in the conference, becomes an opportunity to promote an organization of territorial networks, build alliances and contribute to a structural change of the treatments that focuses people with rare diseases.
Fabiola Bologna, rapporteur of the Law on Rare Diseases 175/2021: “It is a disease that a little compends everything we wanted to insert within the law, from health discourse to the socio-health and welfare discourse for patients, up to the introductions in the context of a complete and satisfactory social life for people and their families”.
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