Article originally published on the NCMM website: https://www.med.uio.no/ncmm/english/news-and-events/news/2024/patient-engagement-workshop.html

The Centre for Molecular Medicine Norway (NCMM), the NCMM Trainee Committee and EATRIS – the European Research Infrastructure of Translational Medicine hosted a patient engagement workshop to raise awareness of research scientists on the importance of involving patients early in the research process. The collaborative workshop was partly funded by the University of Oslo Life Science Initiative Internationalisation support grant, received by NCMM director Janna Saarela, and EATRIS-CONNECT project, a Horizon Europe INFRADEV project coordinated by EATRIS. The workshop focused on rare diseases and included participants from patient organisations with parents of children with rare diseases, European reference networks, and other European Research Infrastructures (Elixir, BBMRI, ECRIN). The speakers presented information and tools aimed at improving patient outcomes. The programme also enabled researchers to learn about the importance of including patient engagement plans in funding applications.

During the workshop, three international and one national patient organisation, all founded by parents of children with rare genetic diseases, shared their experience. Chloe Joyner, whose daughter has been diagnosed with Usher syndrome, is the founder of Usher Kids UK and a passionate advocate for cross-sector collaboration to improve outcomes for those with rare conditions. Alan Finglas, the founder and research manager of MSD (Multiple Sulfatase Deficiency) Action Foundation, driven by his son’s condition, discussed the pitfalls and successes of being a patient advocate. Chip Chambers, an endocrine surgeon and the founder of the DADA2 Foundation, spoke about his efforts in connecting patients, researchers and clinicians to advance the understanding and treatment of the disease. Lastly, Marita Gunn Sandnes (co-founder of GRIN Europe), with Lone Jelva Hansen, both co-founders of the Association for Rare Neurodevelopmental Disorders; and Line Hole, leader of EUPATI Norway - an organisation providing education and training for patients, patient advocates and researchers - gave insightful presentations on the landscape of patient engagement in Norway, addressing the shortcomings and exploring ideas for improvements.

Anna Pasetto, Director of the Advanced Cell & gene Therapy (ACT), a core facility resource at Oslo University Hospital introduced the audience to a newly funded IHI project, RealiseD, starting in January 2025. This project aims to create a playbook to implement a collaborative and comprehensive methodological and operational approach to plan clinical trials for rare and ultra-rare diseases.

Alexandra Poulsson, Senior Adviser from the Norwegian Institute of Public Health and the Norwegian Medical Products Agency and involved in HEU-EFS (Harmonised approach to early feasibility studies for medical devices in the European Union), an IHI funded project, highlighted the importance of early feasibility studies for medical devices to ensure patient safety in Europe. Furthermore, she gave a brief insight into the role policy makers can have on patient engagement.

A key point of this workshop were the presentations by representatives from national nodes of four European research infrastructures. Kristian Hveem from NTNU and the HUNT Research Centre represented BBMRI and spoke about how scientists can access the national biobank infrastructure. Federico Bianchini representing ELIXIR Norway emphasised the importance of data sharing and the FAIR data principles to improve collaborations between researchers across Europe. Marta del Alamo, at ECRIN, shared her experiences of coordinating multinational clinical trials, discussing their clinical trial toolkit. Eliis Keidong, member engagement officer at EATRIS, discussed activities of how EATRIS supports PE and presented the Patient Engagement Resource Centre (PERC) co-developed by EATRIS, the European Patients’ Forum (EPF) and the European AIDS Treatment Group (EATG) that is meant to support translational researchers with finding their way into conducting meaningful patient engagement.

Claudia Fuchs, a project manager for drug repurposing at EURORDIS, gave a talk that focused on two main areas: Patient engagement and access to new treatments through a repurposing project Remedi4All, and examples of early patient engagement from her own research career. Anita Kavlie, National Coordinator of EATRIS Norway, presented two European rare disease programs; the European Joint program for Rare Diseases (EJP RD) and the European Rare Diseases Research Alliance, ERDERA. Anita also highlighted the Innovation Management toolbox that is a reference library of resources in rare disease translational medicine. It is free to use and has been designed to provide investigators with self-help resources specific to their needs. She discussed the ERDERA’s future research funding opportunities for rare diseases and encouraged the audience to include patients in their future funding applications.

The event’s key take home message was that there must be collaboration at all levels (patient organizations, research infrastructures, clinicians, and scientists) across rare diseases to enhance diagnosis, symptom management, treatment, and ultimately patient outcomes and a better experience. Regarding the involvement of basic researchers, Alan Finglas shared his experience, stating that scientists consistently under-promised but over-delivered; therefore, researchers should not to hesitate in reaching out to patient organisations. The trainee committee’s summarized the main message as follows: “As an early career researcher, patients often constitute an elusive figure from which our work often seems remote. Putting a face and a life story to patients really was a humbling and inspiring experience, which highlighted the central role patients ought to have in how we, as a community of researchers, plan and execute our work”.

About EATRIS
EATRIS is the European Infrastructure for Translational Medicine. It’s a non-profit organisation that brings together resources and services for research communities to translate scientific discoveries into benefits for patients. Users are given access to a vast array of expertise and facilities from over 150 top-tier academic centres across Europe. EATRIS focuses on improving and optimising preclinical and early clinical development of drugs, vaccines and diagnostics, and overcoming barriers to health innovation. Find out more about EATRIS here: www.eatris.eu