The Vall d’Hebron Research Institute (VHIR) took part in the second General Assembly of the European project RealiseD, held on 28 and 29 January at the Sant Pau Recinte Modernista in Barcelona. The meeting brought together more than 100 participants from the public and private sectors to assess progress during the project’s first year and define upcoming priorities, reaffirming the consortium’s commitment to co-creation principles and its transformative objectives.

RealiseD brings together around 40 partners from academia, regulatory bodies, clinical research institutes and hospitals, patient organisations, pharmaceutical companies and European research infrastructures. The project is coordinated by Sigmund Freud Private University (SFU) and AstraZeneca, is funded by the Innovative Health Initiative (IHI) and will run until 2029.

RealiseD aims to establish new benchmark standards for clinical trials in rare diseases. To achieve this, the project builds on the advances and outcomes of previous initiatives such as EU-PEARL and Screen4Care, as well as other relevant projects including ERICA, IDeA and ERDERA. Through a co-creation approach, the consortium develops tools, methodologies and standards to improve innovative clinical trial design, incorporating new methods such as Real World Evidence and digital health technologies. The results will be translated into practical tools for planning and conducting clinical trials.

VHIR’s contribution to improving clinical trials

Representing VHIR, professionals from the Rare Anaemias Laboratory attended the meeting. The laboratory is led by Dr. Mar Mañú, Head of the Rare Anaemias Laboratory within the Childhood Cancer and Blood Disorders Group at VHIR and Scientific Coordinator of the ERN-EuroBloodNet network. The team leads the development of a patient referral system, a model designed to ensure that people with rare diseases reach the most appropriate centre at the right time. The system aims to reduce diagnostic delays, concentrate medical expertise in specialised centres and facilitate patient participation in registries, studies and clinical trials.

In addition, Dr. Mar Mañú collaborates in one of the use cases focused on Myelodysplastic and Myeloproliferative Neoplasms (MDS/MPN), in collaboration with Humanitas University (Italy). In this area, the group contributes its clinical expertise to support the validation of innovative methodologies for designing and analysing more effective, realistic clinical trials tailored to the needs of people with rare diseases.

First-year progress and next steps

During the meeting, collaborative efforts and work carried out during the first year were highlighted. Initial results, methodological developments and operational progress were presented across different working sessions. These included preliminary findings from an ongoing survey aimed at identifying and better understanding the factors influencing participation in clinical trials in rare diseases.

The meeting also underscored the central role of patients in clinical trial design and the importance of involving them from the earliest stages of study development, not only in later phases, in order to guide research priorities and ensure that studies address the real needs of patients and families.

The project is also developing a framework based on regulatory and health technology assessment (HTA) principles. This framework will be validated through use cases in rare and ultra-rare diseases, with the active involvement of the European Reference Networks (ERNs) and organisations such as the EMA and IQWiG, which are also members of the consortium.

This project has received support from the Innovative Health Initiative Joint Undertaking (IHI JU) under grant agreement No 101165912. The JU receives support from the European Union’s Horizon Europe research and innovation programme and from COCIR, EFPIA, EuropaBio, MedTech Europe and Vaccines Europe.

The views and opinions expressed are those of the authors only and do not necessarily reflect those of the Innovative Health Initiative Joint Undertaking or its members, which cannot be held responsible.