JTC 2019 on Rare Diseases within European Joint Programme on Rare Diseases (EJP RD)

The French National Research Agency will launch, in partnership with 23 countries, the first European Joint Programme on Rare Diseases for funding “Transnational research projects to accelerate diagnosis and/or explore disease progression and mechanisms of rare diseases”.

The aim of the call is to enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with a clear benefit for patients. Projects shall involve a group of rare diseases or a single rare disease following the European definition i.e. a disease affecting not more than five in 10.000 persons in the European Community, EC associated states and Canada.

Transnational research proposals must cover at least one of the following areas, which are equal in relevance for this call:

• a.    Research to accelerate diagnosis, e.g.:
  • New schemes for finding diagnosis for undiagnosed patients;
  • Improved annotation and interpretation of variants and development of diagnostic tests for the more prevalent variants;
  • Novel modalities of functional analysis of candidate variants through in vitro, cell, tissue or animal studies.
  • -omic or multi-omic integrated approaches for discovery of disease causes and mechanisms including development of relevant bioinformatic tools;
• b.    Research to explore disease progression and mechanisms, e.g.:
  • Natural history studies and patient registries (also for clinical trial readiness). Whenever possible these should include development and use of patient reported outcome measures. In addition, the exploration of the use of standardized M-Health-based surveillance instruments and of patient entered data to gather information for natural history studies is welcome;
  • Identification of clinical biomarkers, clinical outcome measures and surrogate endpoints;
  • Identification of novel pathophysiological pathways in appropriate disease models that effectively mimic the human condition.

The following approaches and topics are excluded from the scope of this call: (1) Approaches concerning rare infectious diseases or rare cancers; (2) Approaches concerning rare adverse drug events/medical complications in treatments of common diseases; (3) Studies that focus on pre-clinical therapy development and/or validation in in-vitro, cellular or animal models. These will be addressed in future calls; (4) Interventional clinical trials; (5) Rare neurodegenerative diseases which are within the main focus of the Joint Programming Initiative on Neurodegenerative Disease Research (JPND; http://www.neurodegenerationresearch.eu/).

Projects shall involve a group of rare diseases or a single rare disease following the European definition i.e. a disease affecting not more than five in 10.000 persons in the European Community, EC associated states and Canada. Applicants are encouraged to assemble groups of rare diseases based on solid criteria and commonalities if this leverages added value in sharing resources or expertise and has the capacity to elucidate common disease mechanisms and therapeutic targets.

The French National Research Agency will finance solely French partners of selected projects, and for a maximum duration of 3 years.