C4C (conect4children) is a large collaborative European network that aims to facilitate the development of new drugs and other therapies for the entire paediatric population. The project promotes innovation in the design of paediatric clinical trials and quantitative methods in order to foster the development of new medicines in rare paediatric diseases and high medical needs areas. EURORDIS is involved in numerous work packages and provides the overall framework for engaging children and young people in the project and has provided a variety of training resources.
The EJP is an umbrella of research funders, scientific institutes, universities, EU infrastructure, hospitals and patient groups cooperating under one umbrella to create an effective rare diseases research ecosystem for progress, innovation and for the benefit of people living with a rare disease. To this end, the EJP RD actions is organised within 4 major Pillars assisted: Funding of research (grants, networking, partnerships)/ Coordinated access to data and services/ Capacity building/ Accelerated translation of research projects and improvement outcomes of clinical studies.
ERICA will strengthen the existing clinical research and innovation capacities of the individual ERNs to allow them to perform collaborative clinical research that meets the regulatory standards required by regulators and HTA agencies. ERICA should be the first step towards having Clinical Research Networks covering all rare diseases conducting collaborative resource. ERICA will address data collection, data sharing and governance strategies, and compile a central repository of rare disease Patient Reported Outcome Measures (PROMs) to facilitate this journey. EURORDIS is a project partner, ensuring that the rare disease patient community perspective is embedded on all aspects linked to the development of Clinical Research Networks, including but not limited to-health data use, establishing research priorities and developing a patient engagement in clinical research.
FACILITATE is looking at ways to return data to patients participating in medical trials. EURORDIS is a partner and working with our volunteers to bring the patient voice and make sure these processes are built around the needs of people living with a rare disease. The project also helps us to follow up on our Rare Barometer study and subsequent publications on rare disease perspectives on data sharing.
Health technologies offer huge potential for rare diseases, however traditional clinical trials are not always feasible to answer questions for HTA assessors expecially when populations are small or when trying to evaluate a combination of different therapies. HTx tries to deal with the issue of evidence generation and analysis for HTA. by focusing on the use of real world evidence (RWE) for HTA combining RWE with data from clinical trials and individual patients data (when available). This project is designing new statistical methods and is testing the use of artificial intelligence and machine learning to predict the best treatment for patients on a personalised basis.
LIVES looks to establish a model to develop a comprehensive research on quality of life in rare diseases. Our role in this project will be to conduct additional analysis of our Juggling care and daily life survey and as such it is a logical continuation of our work in that area, and it complements our efforts on H-CARE nicely.
When families first face a diagnosis, there is often a lack of genetic counselling to help them understand the impact of the disease on the person diagnosed, and the implications for one’s relations. Am I a carriers? How do I comply with expectations to share the possible risks with my immediate and extended family? The main objective of IGP Rare is to propose measures to optimise a more informativeand less harmful « Information Génétique de la Parentèle , » by understanding the psycho / socio / medical mechanisms involved, based on a large collection of experiences of patients with a rare disease. The primary role of EURORDIS in the project is to conduct an analysis of comparative European approaches.
People living with rare diseases often suffer through a ‘diagnostic odyssey’, which involves long and frequent visits to health-care providers, including many rounds of unproductive testing and interventions. This odyssey often provokes anxiety and living without the correct diagnosis brings additional barriers to access social support and leaves families unable to make life decisions based on their condition. Screen4Care takes a dual approach to harness scientific and technological advances to shorten the path to diagnosis. One pillar of the project includes newborn genetic screening (NBS) of 300 varied conditions, as well as whole genome screening for early symptomatic babies and toddlers. The second pillar will utilise large, federated databases to create machine learning algorithms capable of identifying potential presence of a rare condition.
The project hopes to present a clear business case for wider new-born genetic screening, along with a better understanding of the advantages and challenges. We will also develop AI/ML tools to approach diagnosis on electronic health records. EURORDIS brings the patient voice, will provide evidence from a major survey on what disease should be considered ‘actionable’ and enables us to apply our 11 principles on NBS.
SolveRD brings together leading clinicians, geneticists, researchers, patient groups, technology experts and diagnostic platforms (e.g. Oprhanet/RD-Connect) to work on delivering diagnostic tests for rare disease where none exist so far. The project hopes to ‘solve’ these tests for a large number of rare diseases for which a molecular cause is not known yet by sophisticated combined Omics approaches, and to improve diagnostics of RD patients through contribution to a “genetic knowledge web” which is based on shared knowledge about genes, genomic variants and phenotypes. EURORDIS trains patient representatives in genome diagnostics. It also manages the Community Engagement Task Force that supports patient engagement with the different initiatives and networks currently existing in the field of diagnosis at the European and International levels. This work helps EURORDIS to contribute to achieving goals we supported set out by the International Rare Diseases Research Consortium (IRDiRC) to deliver diagnostic tests for most rare diseases.
TEHDAS (Towards the European Health Data Space) helps EU member states and the European Commission to develop and promote concepts for the secondary use of health data to benefit public health and health research and innovation in Europe. The project will focus on engaging other European projects and policymakers in the European Health Data Space; ensuring sustainability of the secondary use of health data in Europe; developing a governance model for cross-border co-operation in the secondary use of health data in EU; promoting the reliability and compatibility of and access to health data for secondary use; and clarifying the role of individuals in the secondary use of health data and including them in dialogue about the use of health data for research and policymaking.
The EU-funded VACCELERATE project creates a platform connecting all European vaccine development stakeholders. VACCELERATE maps clinical trial and laboratory sites across Europe and identifies the best locations for conducting Phase 2 and 3 vaccine trials. A Volunteer Registry provides access to trial participants. The network coordinates laboratory support and provides standardised assays and trial protocols. EURORDIS is on the advisory panel of this project.