Tuesday 29 November 2022 Geneva Mastroianni, Institutional and Regulatory Affairs Specialist at Pharma Value, presented at the 8th National Congress of theISPOR Italy - Rome Chapter a poster produced in collaboration with Francesco Perrone of Alexion, Marcello Girardini of Pierre Fabre and Andrea Marinozzi of ARS R. Marche.

The Poster summarises the data of aanalysis on the timing of access to drugs and advanced therapies (ATMP) for ultra-rare diseases.

In 2021, the Testo Unico delle Malattie Rare was made law in Italy, which provides the definition not only of a rare disease, but also of an ultra-rare disease: a rare disease is defined as such when its prevalence is less than 5 cases per 10,000, an ultra-rare disease, on the other hand, has an incidence of less than 1 in 50,000. For this type of drug there is a fast track in the price and reimbursement process, the so-called '100-day' procedure under the Balduzzi Law. However, we have noticed the complexity of the technology, incomplete evidence and lack of knowledge slow down the evaluation process.

The aim of the analysis was to calculate the average current timeframe of access procedures for drugs and ATMP, recognised as innovative, for ultra-rare diseases.

To this end, the following were analysed: therapeutic need, added therapeutic value, quality of evidence and the place in therapy

To do so, 19 indications (16 drugs) were selected from the list of innovative drugs provided by AIFA. These are drugs for ultra-rare diseases and with orphan designation, 7 of which are ATMPs. The timing of national access was calculated from the date of submission of the dossier to the date of publication of the OJ. To understand the actual impact of each evaluation criterion on the final outcome of the recognition of innovativeness, the qualitative scale was transformed into a score from 1 to 5, where 5 indicates the maximum value.

It is interesting to identify which indications need specialised centres identified by the regions and/or multidisciplinary teams for diagnosis and treatment

The analysis shows that the national average access time of the 19 indications is 459 days where the minimum is 235 and the maximum is 756. For regional access, on the other hand, the average access time is 62 days. The latter was calculated on only 8 drugs, at the moment only for these we were able to track regional access data, but it is our interest to continue the research. Six regions were chosen: two from the north (Veneto and Piedmont), two from the centre (Lazio and Tuscany) and two from the south (Apulia and Sicily). We noted that the minimum score for innovativeness is 2.6 (Innovativeness and data quality. Application analysis of the new AIFA criteria - A. Meremetidis, G. Giuliani). Finally, the analysis showed that of the indications analysed, 10 are classified as H/OSP, 6 as H and 3 as A/PHT. 32% is only prescribed in specialised centres, identified by the regions and in 26% of the cases it is mandatory to have multidisciplinary teams for diagnosis and care.

In conclusion, it can be said that despite the high unmet clinical need for therapies for ultra-rare diseases, the difficulty encountered in assessing and defining place in therapy does not impact positively on timingindeed it seems that such complexity delays further access times in the regional phase for the identification of centres, effectively hindering the arrival of therapy to the patient.

The study shows that, Particularly at regional level, all those organisations (ad hoc committees, dedicated pharmacists and administrators) that are necessary and indispensable must be put in place to make these valuable therapeutic resources available, in the shortest possible time, to those 'rare' patients who would benefit and be entitled to them.

Time is life. Can innovation wait that long? One thought that emerged during the debate following the oral presentation at ISPOR is that pharmaceutical companies and the national and regional health service should work in advance, during the pricing and reimbursement process, so that once the new technology is reimbursed there is already a health organisation ready to receive it.