Rare diseases are life-threatening or chronically debilitating diseases that, according to the European Medicines Agency (EMA), affect around 30 million European citizens, corresponding to approximately 7 percent of the total population, and predominantly affect children.[i]
According to estimates by the Directorate-General of Health, in Portugal there are up to 600,000 people with these diseases, and in most situations they are diseases with a prevalence of less than 1 in 100,000 people (equivalent to less than 100 patients in our country).[ii]
About 80 percent of rare diseases have an identified genetic origin, and 50 percent of new cases are diagnosed in children. Most are severe and sometimes highly disabling, while others do not prevent normal intellectual development and are benign and even functional if diagnosed and treated in a timely manner.
The development of orphan drugs, aimed at rare diseases, presents itself as particularly challenging, in part, because of the limitations in their clinical development process and the limited understanding of the biological mechanisms involved. Patient recruitment for clinical trials cannot always guarantee a statistically representative population due to the small number of patients.
Nevertheless, and given that, according to the European Commission, 95% of currently existing rare diseases still lack available therapies [iii] the focus on research and development of orphan drugs is a public health priority in the current framework of the European Union (EU).
According to the European Commission’s assessment of the implementation of the orphan drug regulation by 2017 (“Commission summary of the Joint evaluation of Regulation“, August 2020), there has been a greater and faster availability of orphan drugs in the European Union (1,956 orphan designations; 142 orphan drugs with Marketing Authorization – MA). Other findings of this evaluation reveal that the incentives currently in place remain relevant for encouraging orphan drug development, and that protocol assistance (scientific advice for orphan drugs) has increased significantly during the 17 years of this evaluation.
At a national level, in 2020, 10 orphan drugs will be approved for public funding and, in 2021, two drugs for cystic fibrosis will be approved for public funding.
On the other hand, it is necessary to promote a more rational use and sharing of existing scientific data on a global scale, enabling faster scientific progress that will reduce the prolonged suffering of patients.
The EMA, together with the Regulatory Agencies of the EU Member States, assumes the important responsibility of facilitating the development and authorization of orphan drugs. Thus, it can only be the goal of Regulatory Agencies, and particularly INFARMED, to ensure equitable access to safe and effective orphan drugs for all citizens who need them.
Over the past decades the European Union (EU) has made major investments to support research in the area of rare diseases, with more than 1.4 billion euros made available for research and innovation projects. Of these projects, it is important to highlight the RD-Connect project, developed between 2012-18, which created robust standards and mechanisms to enable the interoperability and use of the infrastructures in which data on these diseases are stored, boosting, through the scale achieved, research and innovation on rare diseases in the EU.[iv] Additionally, in 2019, the Joint European Programme for Rare Diseases (EJP RD) was established [v].
Rare diseases tend to be both more difficult to diagnose and more difficult to treat when compared to other conditions, due to the lack of knowledge of the pathophysiology of the disease, the lack of well-defined clinical guidelines for each disease, and the smaller number or absence of existing treatments.
In this way, and in addition to the existing effort at the EU level, collaboration on a global scale through projects such as Rare Disease Data and Analytics Platform (RDCA-DAP), which aims to share scientific information in a broad network of researchers dedicated to the study of rare diseases, can make an important contribution to the process of characterization of these pathologies, an essential step in the development of new treatments.
Sharing information on a global scale, provided it is properly coded to comply with the General Data Protection Regulation, would allow a better understanding of the evolution of each pathology.
During the current semester, Portugal presides over the Council of the European Union, and INFARMED is aligned with the other health institutions in the agenda established for the Presidency in the area of health, with a particular focus on a green, digital and fair transition. Accessibility is one of the established pillars, through equitable, cost-effective, and appropriate access to health technologies, particularly innovative ones. In this context, we will be organizing, in April, a Conference on Access to Medicines, to which I would like to invite P-Bio and its associates.
Regarding INFARMED’s Strategic Plan for 2020-2022, we have elected as one of our strategic objectives the support to innovation in the health area, as we consider it to be of high value to society. INFARMED’s initiatives include promoting the integration of regulatory, scientific, and technological knowledge in the development and regulation of medicines, medical devices, and cosmetics.
Innovation in the area of orphan drugs is thus an important contribution to society, providing access to new and better treatments. The generation of a national framework that promotes greater competitiveness and innovation through the empowerment of infrastructures and human resources existing in Portugal in the area of Research and Innovation, and particularly in the clinical trials sector, can thus make an important contribution to the development of innovative medicines in the area of rare diseases.
The development of partnerships with entities in the area of life sciences is presented as a priority initiative, not only by strengthening the transparency of information on clinical trials that is made available, but also by promoting an appropriate regulatory capacity of those involved in research projects and the dissemination of clear information to citizens. INFARMED’s contribution therefore involves not only supporting the pursuit of these European and national objectives, but also applying to the national context the regulatory and scientific knowledge resulting from active participation in European and international working groups. This sharing of data and information in a context of accelerated digital transformation is crucial if we are to foster the availability, accessibility, and cost-effectiveness of these therapies.
I will end my speech by reiterating our commitment: we are the second EU country that evaluates the most orphan designations, which will later become orphan drugs. We are the third country with regard to authorization procedures by mutual recognition. These data confirm our commitment and recognition in the European Medicines Evaluation Network and are our credentials. Guaranteeing health professionals and citizens access to quality, effective and safe drugs and health products, also for Rare Diseases, is not only our mission – it is a reality that INFARMED’s professionals make tangible every day. Count on us!
Rui Santos Ivo, President of INFARMED