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Call: Development of new effective therapies for rare diseases

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Programme
Acronym HORIZON-HLTH-DISEASE
Type of Fund Direct Management
Description of programme
"Horizon Europe - Cluster 1 - Destination 3: Tackling diseases and reducing disease burden"

Calls for proposals under this destination are directed towards the Key Strategic Orientation KSO-D ‘Creating a more resilient, inclusive and democratic European society’ of Horizon Europe’s Strategic Plan 2021-2024. Research and innovation supported under this destination should contribute to the impact area ‘Good health and high-quality accessible healthcare’ and in particular to the following expected impact, set out in the Strategic Plan for the health cluster: ‘health care providers are able to better tackle and manage diseases (infectious diseases, including poverty-related and neglected diseases, non-communicable and rare diseases) and reduce the disease burden on patients effectively thanks to better understanding and treatment of diseases, more effective and innovative health technologies, better ability and preparedness to manage epidemic outbreaks and improved patient safety’. In addition, research and innovation supported under this destination could also contribute to the following impact areas: ‘A resilient EU prepared for emerging threats’, ‘Climate change mitigation and adaptation’, and ‘High quality digital services for all’.

Communicable and non-communicable diseases cause the greatest amounts of premature death and disability in the EU and worldwide. They pose a major health, societal and economic threat and burden. Many people are still suffering from these diseases and too often dying prematurely. Non-communicable diseases, including mental illnesses and neurodegenerative diseases, are responsible for up to 80% of EU health care costs[[Currently, around 50 million people in the EU are estimated to suffer from two or more chronic conditions, and most of these people are over 65. Every day, 22 500 people die in Europe from those diseases, counting of 87% of all deaths. They account for 550 000 premature deaths of people of working age with an estimated €115 billion economic loss per year (0.8% of GDP).]]. These costs are spent on the treatment of such diseases that to a large extent are preventable. Furthermore, only around 3% of the health care budgets are currently spent on preventive measures although there is a huge potential for prevention. Infectious diseases, including infections resistant to antimicrobials, remain a major threat to public health in the EU but also to global health security. Deaths caused by antimicrobial resistance (AMR) could exceed 10 million per year worldwide according to some predictions[[AMR is estimated to be responsible for 25 000 deaths per year in the EU alone and 700 000 deaths per year globally. It has been estimated that AMR might cause more deaths than cancer by 2050.]].

To further advance, there is an urgent need for research and innovation to develop new prevention measures, public health interventions, diagnostics, vaccines, therapies, alternatives to antimicrobials, as well as to improve existing prevention strategies to create tangible impacts, taking into account sex/gender-related issues. This will require international cooperation to pool the best expertise and know-how available worldwide, to access world-class research infrastructures and to leverage critical scales of investments on priority needs through a better alignment with other funders of international cooperation in health research and innovation. The continuation of international partnerships and cooperation with international organisations is particularly needed to combat infectious diseases, to address antimicrobial resistances, to respond to major unmet medical needs for global health security, including the global burden of non-communicable diseases, and to strengthen patient safety.

In this work programme, destination 3 will focus on major societal challenges linked to the Commission’s political priorities such as the fight against cancer and other non-communicable diseases, better diagnosis and treatment of rare diseases, preparedness and response to and surveillance of health threats and epidemics, reduction of the number of antimicrobial-resistant infections, improving vaccination rates, demographic change, mental health and digital empowerment in health literacy. In particular, the topics under this destination will support activities aiming at: i) better understanding of diseases, their drivers and consequences, including pain and the causative links between health determinants and diseases, and better evidence-base for policy-making; ii) better methodologies and diagnostics that allow timely and accurate diagnosis, identification of personalised treatment options and assessment of health outcomes, including for patients with a rare disease; iii) development and validation of effective intervention for better surveillance, prevention, detection, treatment and crisis management of infectious disease threats; iv) innovative health technologies developed and tested in clinical practice, including personalised medicine approaches and use of digital tools to optimise clinical workflows; v) new and advanced therapies for non-communicable diseases, including rare diseases developed in particular for those without approved options, supported by strategies to make them affordable for the public payer; and vi) scientific evidence for improved/tailored policies and legal frameworks and to inform major policy initiatives at global level (e.g. WHO Framework Convention on Tobacco Control; UNEA Pollution Implementation Plan).

In view of increasing the impact of EU investments under Horizon Europe, the European Commission welcomes and supports cooperation between EU-funded projects to enable cross-fertilisation and other synergies. This could range from networking to joint activities such as the participation in joint workshops, the exchange of knowledge, the development and adoption of best practices, or joint communication activities. Opportunities for potential synergies exist between projects funded under the same topic but also between other projects funded under another topic, cluster or pillar of Horizon Europe (but also with ongoing projects funded under Horizon 2020). In particular, this could involve projects related to European health research infrastructures (under pillar I of Horizon Europe), the EIC strategic challenges on health and EIT-KIC Health (under pillar III of Horizon Europe), or in areas cutting across the health and other clusters (under pillar II of Horizon Europe). For instance, with cluster 3 “Civil security for society” such as on health security/emergencies (preparedness and response, medical counter measures, epidemic outbreaks/pandemics, natural disasters and technological incidents, bioterrorism); with cluster 4 “Digital, Industry and Space” such as on decision-support systems or on geo-observation and monitoring (e.g. of disease vectors, epidemics); or with cluster 6 “Food, bioeconomy, natural resources, agriculture and environment” such as on health security and AMR (one-health: human/animal/plant/soil/water health).

Some research and innovation actions under Destination 3 should deliver relevant complementary inputs to the announced “Europe’s Beating Cancer Plan”[[https://ec.europa.eu/info/law/better-regulation/have-your-say/initiatives/12154-Europe-s-Beating-Cancer-Plan]], contributing to actions covering the entire cancer care pathway, including prevention, early detection, diagnosis, treatment, cancer data monitoring, as well as quality of life of cancer patients and survivors. Furthermore, synergies and complementarities will be sought between Destination 3 and the implementation of the EU4Health Programme (2021-2027)[[https://ec.europa.eu/health/funding/eu4health_en]]. These synergies and complementarities could be achieved, notably through mechanisms based on feedback loops, enabling on the one hand to identify policy needs that should be prioritised in research and innovation actions and facilitating on the other hand the implementation of research results into policy actions and clinical practice, thereby providing an integrated response across sectors and policy fields.

Expected impacts:

Proposals for topics under this destination should set out a credible pathway to contributing to tackling diseases and reducing disease burden, and more specifically to several of the following impacts:

  • Health burden of diseases in the EU and worldwide is reduced through effective disease management, including through the development and integration of innovative diagnostic and therapeutic approaches, personalised medicine approaches, digital and other people-centred solutions for health care. In particular, patients are diagnosed early and accurately and receive effective, cost-efficient and affordable treatment, including patients with a rare disease, due to effective translation of research results into new diagnostic tools and therapies.
  • Premature mortality from non-communicable diseases is reduced by one third (by 2030), mental health and well-being is promoted, and the voluntary targets of the WHO Global Action Plan for the Prevention and Control of NCDs 2013-2020 are attained (by 2025), with an immediate impact on the related disease burden (DALYs)[[WHO Global Action Plan for the Prevention and Control of NCDs 2013-2020 (resolution WHA66.10), https://www.who.int/nmh/events/ncd_action_plan/en.]],[[Including for instance the following voluntary targets (against the 2010 baseline): A 25% relative reduction in the overall mortality from cardiovascular diseases, cancer, diabetes, or chronic respiratory diseases; Halt the rise in diabetes and obesity; An 80% availability of the affordable basic technologies and essential medicines, including generics, required to treat major non-communicable diseases in both public and private facilities.]],[[Disability-adjusted life year (DALY) is a quantitative indicator of overall disease burden, expressed as the number of years lost due to ill-health, disability or early death.]].
  • Health care systems benefit from strengthened research and innovation expertise, human capacities and know-how for combatting communicable and non-communicable diseases, including through international cooperation. In particular, they are better prepared to respond rapidly and effectively to health emergencies and are able to prevent and manage communicable diseases transmissions epidemics, including within healthcare settings.
  • Citizens benefit from reduced (cross-border) health threat of epidemics and AMR pathogens, in the EU and worldwide[[WHO global action plan on antimicrobial resistance, 2015.]],[[EU One Health Action Plan against AMR, 2017.]]. In particular, the epidemics of AIDS, tuberculosis, malaria and neglected tropical diseases are contained and hepatitis, water-borne diseases and other communicable diseases are being combated[[Target 3.3 of the UN’s Sustainable Development Goals, 2015.]].
  • Patients and citizens are knowledgeable of disease threats, involved and empowered to make and shape decisions for their health, and better adhere to knowledge-based disease management strategies and policies (especially for controlling outbreaks and emergencies).

The EU benefits from high visibility, leadership and standing in international fora on global health and global health security, especially in partnership with Africa.

Link Link to Programme
Call
Development of new effective therapies for rare diseases
Description of call
"Development of new effective therapies for rare diseases"

Expected Outcome

  • Researchers and developers make the best use of the state-of-the-art knowledge and resources for a fast and effective development of new therapies for rare diseases.
  • Researchers and developers increase the development success rate of therapies for rare diseases by employing robust preclinical models, methods, technologies, validated biomarkers, reliable patient reported outcomes and/or innovative clinical trials designs.
  • Developers and regulators move faster towards market approval of new therapies for rare diseases (with currently no approved treatment option) due to an increased number of interventions successfully tested in late stages of clinical development.
  • Healthcare professionals and people living with a rare disease get access to new therapeutic interventions and/or orphan medicinal products.

Scope:

Despite the considerable amount of knowledge that has been accumulated and the new orphan medicines developed in recent years, the number of available therapies for rare diseases remains low, as fewer than 6% of rare diseases have an approved treatment option.

The joint evaluation of the regulations on orphan medicinal products and paediatric medicines concluded that those regulations have boosted the development for new therapies for rare diseases but have not yet adequately managed to direct research and innovation in areas of greatest unmet medical need. Actually, there is an urgent unmet medical need for the development of therapies for rare diseases, where there is still no approved therapeutic option available.

Therefore, proposals should aim to develop therapies for rare diseases with no approved therapeutic option. Proposals should focus on group(s) of rare diseases with commonalities, such as shared biological features, possibly within the same and/or across different medical areas within the rare diseases landscape. Thus, proposals should not address a single disease only (for example with an Orphacode representing a single disease).

The therapies to be developed may include a broad family of therapeutic interventions such as small molecule(s), advanced therapy medicinal products, repurposing of existing medicinal products, including non-pharmacological interventions and/or their combinations, as relevant. Sex and gender aspects should be considered, where relevant. To ensure that the needs of people living with a rare disease are adequately addressed, the involvement of patient representatives in all phases of the research and development process is strongly encouraged. Rare infectious diseases and rare cancers are excluded from this topic and will not be considered.

The topic will support proposals covering several different stages in the continuum of the innovation pathway (i.e. translational, preclinical, clinical research, validation in the clinical and/or real-world setting etc.), as relevant. SME(s) participation is encouraged with the aim to strengthen the scientific and technological basis of SME(s) and valorise their innovations for the benefit of people living with a rare disease.

The proposals should address most of the following research activities:

  • Establish multidisciplinary collaborations between all relevant stakeholders by integrating disciplines, technological developments and existing knowledge. Integrate harmonised data from multiple sources (i.e. natural history studies/clinical trials, multi-omics, medical imaging, registries etc.) by utilising data analytics and/or other suitable methods, with the aim to understand the pathophysiology/heterogeneity of the rare diseases concerned and to identify therapeutically actionable mechanisms.
  • Develop and utilise relevant preclinical models and/or innovative tools/technologies to: verify molecular/cellular pathways/genes that can be therapeutically targeted, increase the confidence in the targets selection and/or perform toxicity studies. When using disease models the applicants should describe how well the model replicates the pathology or the human condition.
  • Develop and/or execute innovative clinical trials designs for small populations and novel approaches to assess and monitor the safety and efficacy of the proposed interventions. Such approaches may include but are not limited to: biomarkers defining robust surrogate and clinical endpoints; artificial intelligence tools/medical devices/biosensors/ companion/ complementary diagnostics for defining reliable patient reported outcomes; modelling and simulation and in-silico trials methodologies.
  • Carry out preclinical proof-of-concept (PoC) studies and/or multinational interventional clinical studies to demonstrate the safety and efficacy of the therapeutic interventions under study. Preclinical PoC studies should include late-stage preclinical studies (i.e. toxicological properties, adverse effects etc.). Clinical studies may cover all necessary development stages. Applicants should propose a clear exploitation pathway through the different necessary steps (research, manufacturing, regulatory approvals and licensing, IP management etc.) in order to accelerate marketing authorisation and uptake by the health systems.

Proposals should involve group(s) of rare diseases (i.e. a rare disease being individually defined in the European Union as affecting not more than five in 10.000 persons). Proposals that plan to run clinical trials should demonstrate that they have already taken into account scientific advice or protocol assistance from EMA. In particular, proposals planning the clinical development of orphan medicinal products should demonstrate that they have been granted approval for an orphan designation at the latest on the date of the call deadline.

Proposals should adhere to the FAIR data principles and take stock, wherever relevant, of data standards, harmonisation guidelines and good practices for data sharing/access developed by existing European health research infrastructures (i.e. ESFRI infrastructures). Proposals should take stock, where relevant, of the FAIR guidance, of good practices for analytical methods and preclinical models and of good exploitation strategies for the translation of research results into high impact interventions, developed by the European Joint Programme on Rare Diseases (EJP RD) and other relevant EU-funded projects. Whenever the proposed data sources or fields of application include genomics, the proposals should take into account, where relevant, the data standards, and legal, ethical and technical interoperability requirements and guidelines agreed within the 1+ Million Genomes initiative. Data-intensive proposals, particularly those using data from patient registries, could consider the involvement of the European Commission's Joint Research Centre (JRC) and take stock of the tools and services provided by the European Platform on Rare Disease Registration (EU RD Platform), including the adoption, where relevant, of the European standards such as the "set of common data elements”. In addition, synergies should be sought with the European Reference Networks, where relevant.

Projects funded under this topic will contribute towards the goals of the International Rare Diseases Research Consortium (IRDiRC) that supports the development of 1000 new therapies for rare diseases by 2027 and may take stock of the IRDiRC Orphan Drug Development Guidebook, where relevant.

Link Link to Call
Thematic Focus Clustering, Development Cooperation, Economic Cooperation, Research & Innovation, Technology Transfer & Exchange, Health, Social Affairs, Sports, Capacity Building, Cooperation Networks, Institutional Cooperation, Equal Rights, Human Rights, People with Disabilities, Social Inclusion
Funding area EU Member States
Overseas Countries and Territories (OCTs)
United States of America
Origin of Applicant EU Member States
Overseas Countries and Territories (OCTs)
United States of America
Eligible applicants Education and Training Centres, Federal State / Region / City / Municipality / Local Authority, Research Institution, Lobby Group / Professional Association / Trade Union, International Organization, Small and Medium Sized Enterprises, SMEs (between 10 and 249 employees), Microenterprises (fewer than 10 employees), NGO / NPO, Public Services, National Government, Other, Start Up Company, University, Enterprise (more than 250 employees or not defined), Association
Applicant details

eligible non-EU countries:

  • countries associated to Horizon Europe
At the date of the publication of the work programme, there are no countries associated to Horizon Europe. Considering the Union’s interest to retain, in principle, relations with the countries associated to Horizon 2020, most third countries associated to Horizon 2020 are expected to be associated to Horizon Europe with an intention to secure uninterrupted continuity between Horizon 2020 and Horizon Europe. In addition, other third countries can also become associated to Horizon Europe during the programme. For the purposes of the eligibility conditions, applicants established in Horizon 2020 Associated Countries or in other third countries negotiating association to Horizon Europe will be treated as entities established in an Associated Country, if the Horizon Europe association agreement with the third country concerned applies at the time of signature of the grant agreement.

  • low-and middle-income countries

Legal entities which are established in countries not listed above will be eligible for funding if provided for in the specific call conditions, or if their participation is considered essential for implementing the action by the granting authority.

Specific cases:

  • Affiliated entities - Affiliated entities are eligible for funding if they are established in one of the countries listed above.
  • EU bodies - Legal entities created under EU law may also be eligible to receive funding, unless their basic act states otherwise.
  • International organisations - International European research organisations are eligible to receive funding. Unless their participation is considered essential for implementing the action by the granting authority, other international organisations are not eligible to receive funding. International organisations with headquarters in a Member State or Associated Country are eligible to receive funding for ‘Training and mobility’actions and when provided for in the specific call conditions.
Project Partner Yes
Project Partner Details

Unless otherwise provided for in the specific call conditions , legal entities forming a consortium are eligible to participate in actions provided that the consortium includes:

  • at least one independent legal entity established in a Member State;and
  • at least two other independent legal entities, each established in different Member States or Associated Countries.
Call opens 06.10.2021
Call closes 01.02.2022
Further info

Proposal page limits and layout:

  • Part A to be filled in directly online  (administrative information, summarised budget, call-specific questions, etc.)
  • Part B to be downloaded from the Portal submission system, completed and re-uploaded as a PDF in the system

This call is subject of a two-stage procedure. In the first stage, applicants will be requested to submit only an outline application. Successful applicants will be invited to submit a full application for the second stage.

Page limit - part B: 45 pages - The limit for a first-stage application is 10 pages.

Type of Funding Grants
Financial details
Expected EU contribution per projectThe Commission estimates that an EU contribution of around EUR 8.00 million would allow these outcomes to be addressed appropriately. Nonetheless, this does not preclude submission and selection of a proposal requesting different amounts.
Indicative budgetThe total indicative budget for the topic is EUR 60.00 million.
Typ of ActionResearch and Innovation Actions (RIA)
Funding rate100%
Submission Proposals must be submitted electronically via the Funding & Tenders Portal Electronic Submission System. Paper submissions are NOTpossible.

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