Approximately 5,000-8,000 distinct rare diseases (RD) affect 6-8% of the EU population i.e. between 27 and 36 million people; 263-446 million people are affected globall. Despite scientific advances, in Europe, the fact remains that fewer than 10% of RD patients receive treatment and only 1% are managed using an approved treatment. Delivering effective treatments to RD patients where the prevalence is low has been described as one of the major global health challenges of the 21st century. One of the main challenges for RDs is related to diagnosis because RDs are characterised by a broad diversity of syndromic disorders and symptoms that vary from disease to disease and from patient to patient suffering from the same disease. In isolation, these symptoms can be very common, leading to misdiagnosis. Altogether, this leads to a lengthy and burdensome path to diagnosis that can take, on average, take eight years, often involving pointless treatments, creating a heavy human and societal burden that could be avoided by earlier diagnosis.
The overall objective of this call topic is to shorten the path to RD diagnosis by using newborn / paediatric (infants during their first weeks of life) genetic screening; and, via application of advanced digital technologies that enable rare disease diagnosis / identification. The latter might require consolidation of existing fragmented efforts.
The specific objectives are:
In their proposals, applicants should describe how the outputs of the project will contribute to the following impacts and include, wherever possible, baseline, targets and metrics to measure impact.
The Rare Disease conundrum:
Despite the recent rise in RD research and development, most RDs remain under-studied, and therefore under-treated / cared for. This can be attributed for the most part to:
This has the pernicious additional effect of blunting interest in diagnosis / screening initiatives, as it would lead to patients being diagnosed with no concrete medical or clinical option. This poses an ethical challenge, which unfortunately feeds the conundrum. This has been identified as a major problem for the rare disease community.
This Call topic anticipates the following benefits:
In their proposals, applicants should outline how the project plans to leverage the public-private partnership model to maximise impact on innovation, research & development; regulatory, clinical and healthcare practices, as relevant. This could include a strategy for engagement with patients, healthcare professional associations, healthcare providers, regulators, health technology assessment (HTA) agencies, payers etc., where relevant.
In addition, applicants should describe how the project will impact the competitiveness and growth of companies including SMEs.
In their proposals, applicants should outline how the project will: