The bill “Amyotrophic lateral sclerosis (ALS) was approved unanimously. Mandatory measures for the clarification of the diagnosis through genetic tests and the establishment of the register of neurodegenerative diseases”, of which the Action councilor, president of the Budget Commission, is the first signatory. The obligation to prescribe a genetic test is therefore established, unless expressly waived by the interested person or by anyone who has the legal right to do so, to identify any mutations of the Sodi, Pus, C90rfeTdp43 genes, or of further genes identified over the following years and based on new and further scientific and technological innovations.
With the approved law, the genetic forms of Amyotrophic Lateral Sclerosis will be diagnosed more early and promptly. The CGSL will be ensured for all affected people and those with an established risk of predisposition on a family basis, for the purpose of planning any diagnostic surveillance initiatives, in compliance with national and international guidelines.
The access requirements and methods of provision of the CGSL, including the taking in charge, the diagnostic surveillance measures and relative periodicity, include the checks on the greater concentration of neurofilament subunits in the CSF or in the circulatory system, or other and further analyses. on bio markers however named, will be established by resolution of the general director of the Regional Agency for health and social care of Puglia-AReSS, after consulting the specialists of the reference centers for ALS identified by the Region in the network for rare diseases, qualified in ‘ensure the process of taking on patients and prescribing the relevant genetic tests. In particular, among these Centers, the Center will be identified by AReSS itself with the function of coordinating, based on experience and the greater number of cases treated, the activities and related protocols and will assume the role of contact person in the establishment and management of the regional Registry of neurodegenerative diseases (not SLA only), to be established with the approval of the same bill.
The CGSL, any genetic testing and diagnostic surveillance will be free. Furthermore, the Regional Neurodegenerative Diseases Registry (Register) is established, which is very useful for better managing epidemiology and research activities. In transitional terms, the proposed law prescribes genetic testing for all patients with a diagnosis already established on the date of entry into force of the law and for whom the genetic investigation has not been ordered.
