Joint Transnational Call 2022

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 expected impact to use the results in the future for benefit of patients

Topic: Development of new analytic tools and pathways to accelerate diagnosis and facilitate diagnostic monitoring of rare diseases

Research proposals should cover at least one of the following areas:

1. Phenotype-driven diagnosis: integration across different ontologies, integration of shared pathways, digital phenotyping, development of artificial intelligence approaches/applications to extract health related data in aid of diagnosis;
2. Prognostic markers/biomarkers investigations for early diagnosis and monitoring;
3. Methodologies for solving cases that are currently difficult to analyze due to different underlying mechanisms (e.g. mosaicism, genomic (non-coding) alterations, gene regulation, complex inheritance), including new genomics / functional genomics technologies, multi-omics, mathematics, biostatistics, bioinformatics and artificial intelligence approaches;
4. Functional strategies to globally stratify variants of unknown significance (VUS) for clinical use; setting up of (in vitro) systems to distinguish between VUS and pathogenic variants (e.g. confirming disruption of splicing for deep intronic variants, loss of protein function, and gain of toxic protein function);
5. Development of pathway models to enable diagnosis, especially for newly discovered diseases that may share underlying molecular mechanisms with already known diseases.

It is possible to use cellular and animal models for validation of the new diagnostic approaches in the subtopics listed above where relevant.
Furthermore, additional elements need to be considered in the application:

• The design of the study (sample collection, statistical power, interpretation, relevant models for hypothesis validation) must be well justified and has to be part of the proposal;
• For natural history studies and patient registries: strategies and timelines for patient recruitment, retention, assessment, and analysis must be included. Data supporting the proposed recruitment numbers is mandatory. The study design and objectives should take into consideration what information regarding the rare disease population would be needed in order to pursue clinical trials or other health care related studies in that rare disease. There always need to be clear research questions that are addressed in the study/registry. Clear plans for sustainability of the resources must be described. Consideration of common data elements as outlined in the recent publication “Set of Common Data Elements for RD Registration”;
• Integration of appropriate bioinformatics and statistical skills should constitute, whenever justified, an integral part of the proposal, and the relevant personnel should be clearly specified;
• The new research data resulting from the project should be treated permissible according to the FAIR[1] principles, and deposited and shared, according to the national/regional rules of the countries involved. It is strongly advised to make data accessible through RD-Connect and through Elixir – compiling a list of resources for the deposition of experimental, biomolecular data). To make research data findable, accessible, interoperable and re-usable (FAIR), a data management strategy for the proposed full project is mandatory in the full proposal stage. Some countries involved in EJP RD JTC 2022 will also ask for a data management plan (DMP) at national level at the stage of full proposal or after granting of the project.

The following approaches and topics are excluded from the scope of the call JTC2022:

• Interventional clinical trials to prove efficacy of drugs, treatments, surgical procedures, medical technology procedures. This also includes studies comparing efficacy, e.g. two surgical techniques or therapies. Clinical phase IV pharmacovigilance studies cannot be funded either.
• Studies on the exclusive testing of the safety of medical devices.
• Development of new therapies as covered in EJP RD JTC 2020.
• Projects focusing only on rare neurodegenerative diseases which are within the main focus of the Joint Programming Initiative on Neurodegenerative Disease Research (JPND). These are: Alzheimer’s disease and other dementias; Parkinson’s disease (PD) and PD-related disorders; Prion diseases; Motor Neuron Diseases; Huntington’s disease; Spinal Muscular Atrophy and dominant forms of Spinocerebellar Ataxia. Interested researchers should refer to the relevant JPND calls. However, childhood dementias/neurodegenerative diseases are not excluded.
• Rare infectious diseases, rare cancers and rare adverse drug events in treatments of common diseases. Rare diseases with a predisposition to cancer are not excluded.

[1] FAIR: Findable, Accessible, Interoperable, Reusable (for more information: see “The FAIR Guiding Principles for scientific data management and stewardship”

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 these leverages added value in sharing resources or expertise and has the capacity to elucidate common disease mechanisms and therapeutic targets.

Partners belonging to one of the following categories may request funding under a joint research proposal (according to country/regional regulations):

• academia (research teams working in universities, other higher education institutions or research institutes),
• clinical/public health sector (research teams working in hospitals/public health and/or other health care settings and health organizations),
• enterprises (all sizes of private companies) when allowed by national/regional regulations,
• patient advocacy organizations.

The maximum duration of the project is three years.
Only transnational projects will be funded. Each consortium submitting a proposal must involve four to six eligible principal investigator partners from at least four different participating countries. No more than two eligible partners from the same country can be present in each consortium (further national limits may apply). This limit applies to Early Career Researchers and partners from underrepresented countries (see below).

The number of partners can be increased to 8 in two cases:

• The inclusion of partners from participating countries usually underrepresented in projects (Slovakia, Hungary, Lithuania, Poland, and Turkey).
• The inclusion of Early Career Researchers as full partners.

Each transnational proposal must nominate a project consortium coordinator among the project partner principal investigators. The coordinator must be an eligible project partner from an EJP RD JTC 2022 funding country/region. The project coordinator will represent the consortium externally, to the JCS and to CSC, and will be responsible for its internal scientific management (such as controlling, reporting, and intellectual property rights issues). This workload should be taken into account in the estimation of the budget of the coordinator. A single principal investigator will represent each project partner. Within a joint proposal, the principal investigator of each project partner will be the contact person for the relevant country/regional funding organization.

The aim of the call is in compliance with the vision and goals set by the International Rare Diseases Research Consortium (IRDiRC) which fosters international collaboration in rare diseases research. For more information, visit the IRDiRC website.

The use of JTC2022 matchmaking tool is strongly encouraged to build multidisciplinary research projects:  https://live.eventtia.com/en/jtc2022matchmaking

There will be a two-stage submission procedure for joint applications: pre-proposals and full proposals. 
An independent international Scientific Evaluation Committee will carry out a scientific evaluation according to specific evaluation criteria.

For general questions regarding the joint call please contact the Joint Call Secretariat at the ISCIII, Spain:

E-Mail:
Ignacio Baanante Balastegui
Ibaanante@isciii.es
+34 91 822 25 76

Maria Druet
mdruet@isciii.es
+34 91 822 2530

For questions regarding national eligibility criteria and requirements please contact the national contact person listed below.

The documents for the JTC 2022 are available here.