Rare diseases and Orphan drugs
A meeting was held on 17 April 2024 in the hall of the “Last Supper” at the Italian Chamber of Deputies (Camera dei Deputati, the lower house of Italian parliament) between public representatives, experts and trade associations to discuss the issues still existing in the sphere of the cures for rare diseases and the related orphan drugs.
The industry was also invited, and some pharmaceutical companies sponsored the event. However, in spite of their involvement in the organization and financing, and although pharmaceutical companies were mentioned as stakeholders and integral part of the required process of improvement in the quality of life of patients and their families, they were practically absent.
On this regard, several clinical specialists stressed the importance of identifying dedicated drugs to treat these conditions, because in some cases they showed to be critical, just as the screening.
As an example, a reference was made to amyloidosis, now among the most treatable diseases, thanks to the development of dedicated monoclonal antibodies, or hemophilia, where new therapies developed in the last decade based on extended half-life recombinant factors, gene therapies and monoclonal antibodies contributed to a more longevity for hemophiliacs.
In general, companies have no great business interest for orphan drugs intended for the cure of rare diseases.
The biggest stumbling blocks to be overcome are the difficulty to manufacture them in such limited quantities and the small number of patients to be treated.
Regulatory tools to support Orphan Drugs
To stimulate this niche market, there are several regulatory and economic tools to support the development and registration of orphan drugs, and some pharmaceutical companies have set up some internal units dedicated to orphan drugs.
After all, the situation of rare diseases in Italy is indeed a significant challenge for the health system, as well as for the affected patients and their families; in our country, in fact, there are approx. 2 million people suffering from a rare disease, 70% of which in the pediatric age.
According to Orphanet and to the National Registry of Rare Diseases of the Higher Health Institute (ISS), it is estimated that there are approx. 20 cases of a rare disease every 10,000 inhabitants, with approx. 19,000 new cases reported every year. In spite of such significant numbers, patients affected by rare diseases still meet great difficulties and inequalities in the access to early diagnosis, appropriate treatments and support, including the lack of assistance and diagnostic-therapeutic plans that are specific for their diseases.
This is the reason why a dedicated and inter-party Parliamentary Committee was set up, committed to the steady improvement of rare diseases management and with special attention to the development of orphan drugs.
On 27 November 2021, Law no. 175/2021 on rare diseases (consolidated text), was published in the Official Journal of the Italian Republic, laying down “Provisions for the cure of rare diseases and for supporting research and manufacturing of orphan drugs”.
This law aims at evening out the management and treatment of these conditions, as well at favoring the access to the required drugs, that have to be immediately available regardless their inclusion in hospital formularies by local authorities.
The Essential Levels of Assistance
The Law does not provide any details, but it obliges Italian regions to commit to reduce the time to access authorized therapies.
Moreover, it provides for an update of the so-called LEA (Livelli Essenziali di Assistenza, Essential Assistance Levels), needed to ensure a minimum level of health assistance, regardless the region of the patient’s legal residence.
LEAs undergo periodic reviews involving the Ministry of Health, Italian regions, local entities, health professionals and other stakeholders. The main limits to the LEA approval include the great number of bodies involved and the impact on the health costs.
Although this law became effective almost two years ago, it is still widely unimplemented. The reasons for this are ascribable to the lack of implementational decrees, that have not been issued so far, and to the delays in the approval process of the Rare Disease National Plan (PNMR), approved as final in the State-Region meeting on 24 May 2023, and from which the law cannot be separated.
The National Plan is in fact needed to define the common goals to be achieved in the health system, providing detailed indications on how to implement the LEAs.
The PNMR is essential to improve the assistance in rare diseases, but it could still be limited by insufficient financial resources as well as delays in the allocation of funds by the Regions.
These difficulties are further stressed by the fragmentation of the Italian health system at regional level, that has led to a well-known variability in the services offered in the various regions.
The different economic situations of the Italian regions have generated inequalities in the access to health services, and consequently in the use of vital drugs. This involves significant disparities between people suffering from the same disease depending on the region where they live.
Besides, the system of a regionalized health facility generates difficulties in the coordination at national level, hindering the application of centrally-issued laws.
Written on 03/05/2024 by Anna Pia Dima e Valeria Cardinale
