The organization of the EJP RD consortium reflects well the organization of IRDiRC by bringing under single umbrella funders, research performing institutions, healthcare providers, patients and linking to industry. In addition, the majority of EJP RD partners are also members of IRDiRC. This will not only allow but also accelerate the follow up of IRDiRC policies and contribution to its objectives. Furthermore, constant connection to IRDiRC will be maintained by the integration of IRDiRC chair and vice chair in the EJP RD Policy Board, incorporation of IRDiRC Scientific Secretariat in the EJP RD Coordination Office, implementation of joint Task Forces and participation of rare diseases experts and other EJP RD members in IRDiRC scientific and constituent committees.
The large part of funders involved in the EJP RD are members of IRDiRC. Funding bodies participate either with “individual” status or through the “E-Rare group of funders” that joined IRDiRC in 2012 and were strongly involved in determining the vision and goals of IRDiRC for the period 2017-2027. The support to IRDiRC policies and objectives is already translated through introduction of IRDiRC recommendations in guidelines for researchers as well as implementation of joint transnational calls targeting topics identified by IRDiRC as of most importance. This will be continued and further expanded within Pillar 1 activities.
The Pillar 2 main goal is to provide access to data and services to allow better research towards diagnostics as well as new and more effective therapies for rare diseases. Thus, the overall Pillar 2 was designed towards IRDiRC 2017 – 2027 goals, namely (i) provision of a diagnosis within one year to all patients coming to medical attention with a suspected rare disease if their disorder is known in the medical literature or integrating of all currently undiagnosable individuals into a globally coordinated diagnostic and research pipeline and (ii) to develop 1000 therapies. These new IRDiRC goals can only be achieved with fundamental changes to the way science is conducted, shared, and applied to the care of rare disease patients. By creating an innovative VP and by putting in place mechanisms for constant improvement and continuous integration of new data, standards and resources, Pillar 2 realizes the commitment of Europe to catalyse those qualitative changes. Based on real-life use cases and needs brought by ERNs, Pillar 2 will help generating new knowledge on disease mechanisms towards better diagnosis and identification of druggable targets and disease modifiers to be used in research, by bringing together data and resources (expanding beyond RD), so as to take the best advantage of the most cutting-edge research across domains.
Although IRDiRC recommendations do not target specifically education and training activities, its overarching and specific goals will be followed within Pillar 3. This includes for example raising awareness of complexity in diagnostics of unsolved patients with RD in the healthcare system or enhanced uptake of research results for translation into tangible outcomes, diagnosis and therapy development.
With a central aim of IRDiRC being therapies and diagnostics, the patient-centric approach to Pillar 4 will directly contribute to its goals. The vast pool of resources, expertise and projects that will be created by EJP RD will be supported by P4 to take the outstanding discoveries and bring them towards the patient in form of a novel product. Further leveraging other funding sources will act as a multiplier to these efforts, and thereby improve Europe’s ability to contribute significantly to the IRDiRC goals.
Yearly updates on impact 6
The IRDiRC overarching vision is to enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention. This translates through three major goals: Goal 1: All patients coming to medical attention with a suspected rare disease will be diagnosed within one year if their disorder is known in the medical literature; all currently undiagnosable individuals will enter a globally coordinated diagnostic and research pipeline. Goal 2: 1000 new therapies for rare diseases will be approved, the majority of which will focus on diseases without approved options. Goal 3: Methodologies will be developed to assess the impact of diagnoses and therapies on rare disease patients.
Within its first year the EJP RD fully aligned its actions with strategic recommendations and roadmap of IRDiRC. This lead not only to the contribution to IRDiRC goals by implementing of specific actions (for example funding of RD research projects fostering acceleration of RD diagnosis and new therapies) but also optimisation of and joint activities. On one hand, EJP RD included outcomes of IRDiRC Task Forces (Galaxy Guide to orphan drug development, Small Population Clinical Trials -SMCT) into its services and support, thereby ensuring visibility and sustainability of the Galaxy Guide and investment in methodology demonstration projects to provide evidence for new SPCT methods. On the other hand, IRDiRC profits from the expertise contained in the EJP RD and especially access to the European Reference Networks, for its new Task Forces. Thus, this mutual exchange and collaboration strongly impacts and profits to both EJP RD and IRDiRC