Orphan drugs for rare diseases on the rise, 146 already authorized

The availability of orphan drugs in Italy is growing: as of December 31, 2023, out of 155 drugs authorized by the European Medicines Agency (EMA), 146 were available in our country, equal to 94.2% of the total. This figure is up from 84.9% the previous year, confirming Italy's second place in Europe, behind only Germany. This is one of the findings from the 11th MonitoRare Report, presented today in Rome by Uniamo - the Italian Federation of Rare Diseases.

Consumption and spending on orphan drugs are also increasing: in 2023, they represented 0.05% of total consumption, with an impact of 8.5% on national pharmaceutical spending, compared to 0.04% and 6% in 2022. By comparison, spending on oncology drugs was 18.4%.

The increase in drugs included in the list of Law 648/1996 is also positive: 68 in 2024, compared to 31 in 2018 and only 13 in 2012. Doctor training is also growing: 76 ECM courses dedicated to rare diseases in 2024. The coverage of regional registries is growing (+30,000 units) and the number of Italian centers involved in the European Reference Networks is increasing: there were 66 in 2021, 78 in 2024, for a total of 262 centers.

However, "regional inequalities, uneven access to treatment times," and deficiencies in multidisciplinary care persist. "A mixed picture," explains Uuniamo President Annalisa Scopinaro, "which reflects, on the one hand, the system's progress, and, on the other, the urgent need for structural, equitable, and consistent strengthening." To achieve these goals, the work of the National Rare Disease Registry is essential. Its data flow is the tool through which the National Center for Rare Diseases monitors the healthcare network. "Data," explains Rocco Bellantone, President of the Italian National Institute of Health, "are a fundamental element in public health decisions because they provide the basis for identifying needs, assessing risks, and monitoring the effectiveness of interventions."