The Italian Medicines Agency has published the 2025 Independent Research Call on rare diseases, with a budget of EUR 17,800,000 for the promotion of studies on low-prevalence diseases, which often do not attract significant commercial investment. This is a further step in AIFA’s efforts to promote independent scientific research, to encourage the development of effective drug therapies, so improving the health and quality of life of rare disease patients. According to Uniamo Federazione Italiana Malattie Rare, in Italy, patients are more than 2 million, while the known pathologies are about 8 thousand. Only 5% of them have a treatment available.

Every rare disease patient has the right to hope, dignity and innovative treatment, but due to their low prevalence, rare diseases often suffer from being unattractive to commercially funded, for-profit research. To address this gap, in addition to adopting measures and incentives to facilitate the market entry of orphan drugs – says AIFA’s President Robert Nisticò – the Agency financially supports independent research into rare diseases, which plays a vital role in enhancing our understanding and unlocking the mechanisms behind these complex conditions. It is our most powerful tool for supporting patients, and the publication of the Call is a step in that direction.

“With this call, we are making support for independent research on rare diseases structural, responding promptly to the regulatory mandate of the Consolidated Law 175 of 2021”, says the Undersecretary of Health Marcello Gemmato, MP. “Allocating 2% of the AIFA fund to non-profit research exclusively focused on rare diseases represents a tangible commitment to patients and their families, as well as to the scientific community, which will finally have access to public funding for studies and clinical trials on orphan drugs. This commitment confirms Italy’s desire to consolidate its role as one of the world’s leading countries in the treatment of rare diseases, as well as ensure equal access to treatment throughout Italy”.

As established by the Consolidated Law on Rare Diseases (Law No. 175/2021), the Call is funded through a 2% increase in the AIFA Fund, which is composed of annual contributions from pharmaceutical companies' promotional expenditures. It is open to all Italian researchers affiliated with public or private institutions who wish to carry out non-commercial studies capable of generating evidence with tangible impact in the field of rare diseases. In particular, the Call focuses on two lines of investigation:preclinical and clinical studies aimed at developing pharmacological therapies for conditions lacking specific treatments, including drug repurposing projects to explore new therapeutic indications for rare diseases, as well as preclinical and clinical research focused on the development of plasma-derived orphan drugs. Researchers may submit their proposals electronically starting at 10:00 a.m. on Monday, 9 June 2025, by following the instructions that will be published on the AIFA website. The deadline is Wednesday 23 July 2025 at 12 noon.