Italy's Official Journal no. 283 of 27 November 2021 has published the text of law no. 175 dated 10 November 2021 containing “Provisions for the treatment of rare diseases and for the support of research into and production of orphan drugs” (the Consolidated Law on Rare Diseases), whose purpose is to ensure the protection, at multiple levels, of the health rights of individuals affected by the pathologies in question.

Specifically, after article 1 sets out the measures to guarantee the intention of the law, articles 2 and 3 define the terms rare disease and orphan drug. Article 4 assigns to the reference centres indicated by ministerial decree 279/2001 the formulation of the personalised diagnostic, treatment and care plan for an individual affected by a rare disease, and also provides a structured procedure for the transition from paediatric care to adult care.

Article 5 sets out provisions to ensure pharmaceutical support and the immediate availability of orphan drugs, and, under certain conditions, allows for drugs marketed in other countries to be imported, eventually for uses not authorised in the countries of origin, provided that such uses are envisaged by the diagnostic, treatment and care plans. Article 6 establishes a solidarity fund for people affected by rare diseases, which will finance the measures to support people affected by these pathologies, and provides for an implementing regulation to be adopted by the Ministries concerned within three months of the law coming into force.

Furthermore, the law defines the functions of the national centre for rare diseases and the creation of the national committee for the pathologies in question (arts. 7 and 8) and provides for the approval every three years of the national plan establishing objectives and related activities in this area (art 9). The law also involves the Italian Regions, requiring them to ensure the flow of information on the rare disease networks to the national centre, in part to guide and support national planning and control activities (art. 10).

The law provides that as from 2022 the national fund for the use, at the expense of the Italian national health service, of orphan drugs for rare diseases and of drugs offering hope of a cure, pending marketing, shall be supplemented by an additional contribution by the pharmaceutical companies corresponding to 2% of their self-certified expenses to the overall expenditure incurred during the previous year for promotional activities addressing healthcare personnel (the fund currently operates through the AIFA and is funded with 2.5% of the expenses in question; consequently, with the new law, the contribution of the pharmaceutical companies will rise to 4.5%).

The competent Ministries are required to identify (within 6 months of the law coming into force) the criteria and procedures for accessing the subsidies envisaged by article 12 to support research work, to promote independent research in the area of rare diseases (art. 13), and to promote measures to provide patients and their families with correct information and raise public awareness.

The law certainly lays the basis for a significant legislative change on this important and sensitive question. It will come into force on 12 December 2021.