IRDiRC, officially launched in 2011, was originally conceived with two main goals: to contribute to the development of 200 new therapies and the means to diagnose most rare diseases by the year 2020. The last six years have seen considerable progress on these goals: the goal to deliver 200 new therapies was achieved in early 2017 – three years earlier than expected – and the goal for diagnostics is within reach.
In light of this, IRDiRC initiated a year-long collaborative process to devise a new set of global rare disease goals for the upcoming decade.
It is still a reality for rare disease patients to spend years in the health care system before an accurate diagnosis is made. Next-generation sequencing and improved data sharing have resulted in faster discovery of gene disease and thus diagnostics. However the rate of gene disease discovery is now slowing probably as a consequence of the likely complex origin of the remaining unsolved disease. To face this challenge, new methods in particular addressing non coding region of the genome will need to be developed. In addition, even if the rate of rare disease therapeutic development and approval has been increasing, 94% of rare diseases still lack an approved treatment. Moreover, the number of untreatable rare diseases that have a first treatment approved remains low and even when a treatment is available, patients do not have always a guaranteed access to it. To face therapeutic discovery challenges, new approaches such as data-mining and repurposing and new models for funding drug discovery and covering treatment costs will be needed.
The Consortium wants to ambitiously push the limits of what is currently possible in the longer term with an audacious vision for the field, all with rare disease patients’ lives in mind.
The new vision: 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.
In order to work towards this bold and ambitious vision, IRDiRC has set three goals for the next decade:
- 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
To achieve this goal, IRDiRC plans to work on the following points:
- To increase public and physicians’ awareness on the requirements for radically more efficient sharing of diagnostic expertise and data worldwide
- To push for wide acceptance of data standards and ontologies
- To promote the use of automated exchange of phenotypic and genomic information via shared platforms and tools
- To collaborate with worldwide global network of appropriate expertise such as the Undiagnosed Diseases Network International (UDNI) in US or the Japanese Initiative on Rare and Undiagnosed Diseases (IRUD) for complex cases
- To improve education of physicians and engagement of patients
- 1000 new therapies for rare diseases will be approved, the majority of which will focus on diseases without approved options.
To achieve this goal, among planned actions are:
- To identify new approaches to increase the development of more orphan medical products
- To work on policies on the risk-adjusted development costs/post regulatory approval access
- To target predominantly diseases currently without approved drugs
- To work closely with representation from health technology assessment agencies
- To improve methods for preclinical assessment of safety and for small size clinical trials
- To collaborate with the European Reference Network and the US Rare Diseases Clinical Research Network in clinical studies and trial recruitments
- Methodologies will be developed to assess the impact of diagnoses and therapies on rare disease patients
To achieve this goal, IRDiRC will approach from the research side:
- The development of methodologies in including various parameters such as clinical guidelines, regulatory policies, pricing, insurance, coverage, formulary, reimbursement…
- The involvement of under-developed areas worldwide
- The measure of the impact of diagnosis: need of quantitative and statistical analysis, assessment of quality and/or economic dissection of repercussion on medical care
- The measure of the impact of a treatment: use of existing tools and platforms such as NIH Genetic Testing Registry or RARE-Bestpratices
- Promotion of research in health systems, economics and ethical frameworks
The progress on IRDiRC’s previous goals has shown that the international rare diseases research community is eager to share knowledge and experience, and work collaboratively across borders in order to bring diagnoses and therapies to patients. These new goals can only be achieved with fundamental changes to the way science is conducted, shared, and applied to the care of rare disease patients. IRDiRC members have committed to catalyze such changes and we hope that others will share and help with this commitment to action. It is time to build new bridges and raise the bar for rare diseases research worldwide.
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