FRRB is pleased to announce the publication of the new European Joint Programme for rare diseases - Joint Transnational Call (JTC 2023) “Natural History Studies addressing unmet needs in Rare Diseases”.
The objective of this call is to conduct efficient, innovative and high-quality natural history studies which will facilitate understanding of the disease’s or group of disorders’ progression throughout the lifespan of a patient. The goal of these studies is to collect and analyse comprehensive patient data to define targets for future therapies, taking into consideration innovation, safety, and efficacy.
Research proposals should cover at least one of the following areas:
1. Estimation of disease prevalence.
2. Identification of biomarkers/companions for the diagnosis/prognosis of a RD.
3. Identification of biomarkers/indicators/predictors of a rare disease or group of disorders (e.g. having the same aetiology) onset/progression (including collection of genetic, physiological, environmental data or variables….).
4. Identification of relevant endpoints for future studies that include potential biomarkers, querying patient-reported outcomes (PROs) and quality-of-life measures.
5. Identification of biomarkers/variables for therapeutic approaches (pharmacology, drug repurposing, gene therapy, RNA therapy, cell therapy, medical devices…).
It is possible to use cellular and animal models for validation of endpoints and biomarkers uncovered in the natural history studies where relevant.
Furthermore, additional elements need to be considered in the application:
6. Strategies and timelines for patient recruitment, retention, assessment, and analysis must be included.
7. 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.
8. Proposals are expected to consider how sex and/or gender might shape research activities.
9. Providing harmonized/standardized data, collected using innovative means (AI, simulations, modelling…) are highly encouraged.
10. The new research data resulting from the project should be treated permissible according to the Findable, Accessible, Interoperable, Reusable for humans and machines conforming to FAIR principles, and deposited and shared, according to the national/regional rules of the countries involved.
11. Insights into defining genotype/phenotype correlations, identifying appropriate subpopulations or stratification of patients for a trial are of importance to characterise newly discovered disease, a new subgroup of patients etc.
12. Inclusion of patient and caregiver perspectives from the RD community is strongly encouraged.
13. For the small group of well-characterized rare diseases with approved treatments or improved standard of care, prospective studies can help to better define the altered disease progression under the current medical setting.
FRRB, as Funding agency and partner of the project, will offer Public or Private IRCCS (Scientific Institutes for Research, Hospitalization and Health Care), Public Health Care Providers (ASST), Agenzie di Tutela della Salute (ATS), Azienda Regionale Emergenza Urgenza (AREU), Universities and Research Institutes located on the Lombardy territory the opportunity to present a project proposal.
For this Call FRRB has allocated a total budget of Euro 1.500.000,00.
According to internal procedures, Regional Foundation for Biomedical Research (FRRB) will grant an eligibility clearance to the potential applicants prior to the submission of the pre-proposals.
Pre-eligibility documents can be downloaded from the official project page and on this page, in the "Download documents" section.
FRRB provides an excel sheet to help applicants abide by FRRB funding rules. This form is meant to support the PIs in the elaboration of the budget, but it does not need to be sent to FRRB.
Definition of Research Institutes/organisation
For the purposes of this Call, the following definition applies.
Research Institute/organisation is defined as any institution that has all of the following characteristics:
a) it includes, within its Statute, the aims of research and the dissemination of scientific knowledge;
b) it mainly and continuously carries out independent research and dissemination of scientific knowledge;
c) it is equipped with stable structures, premises and/or laboratories and instruments suitable for carrying out research activities;
d) it employs qualified personnel suitable for the research activity;
e) it does not include, among its activities, the funding of research through competitive calls for proposals.