The European Rare Diseases Research Alliance (ERDERA) marked its second year by bringing together more than 25 000 diagnostic datasets to help researchers investigate unresolved cases, launching a Clinical Trial Call to test potential rare disease treatments in early-phase multinational studies, and establishing 24 National Mirror Groups to connect national communities with European research. These developments framed the Open Session of its third General Assembly Meeting, held in Coimbra, Portugal, and online on 21 October.
Opening contributions came from João Ramalho-Santos, Vice-Rector for Research at the University of Coimbra, and Professor Luís Pereira de Almeida; ERDERA Coordinator Daria Julkowska; Tomasz Dylag of the European Commission’s Directorate-General for Research and Innovation; and Dusan Sandor, ERDERA’s project adviser at the European Health and Digital Executive Agency (HaDEA).
Dylag set out the partnership’s challenge: “For ERDERA, the next goal will be to translate this scientific progress into benefits for patients, for diagnostics, for treatments, and for improved quality of life.”
A second year focused on delivery
Julkowska explained that the diagnostic datasets came from 26 partners in 16 countries. Bringing data and expertise together supports a fresh examination of cases that previous testing has not resolved, with the aim of finding answers for people still awaiting a diagnosis.
The Clinical Trial Call addresses another difficult step: testing promising treatments in people. It supports early-phase trials across countries to assess safety, dosing and initial signs of benefit, with patient involvement built into study design and delivery. Meanwhile, the National Mirror Groups bring patients, clinicians, researchers, funders and authorities together to feed national needs into ERDERA and share its tools and opportunities locally.
“To develop a treatment for one person, you need the strength of an entire continent,” she said. Calling for continuity in national and European support, she added: “No country can do this alone and fragmentation is a cost we cannot afford. We must protect the continuity required to turn this progress into more benefits for patients.”
From personal risk to treatment development
Sonia Vallabh, Director of Prion Therapeutic Science at the Broad Institute, illustrated what that effort entails. Drawing on her experience as a person at genetic risk and a scientist, she described experimental therapies that reduce the amount of prion protein and the research needed to bring them into trials.
Following discussions with the US Food and Drug Administration, her investigator-led trial had recently opened recruitment to people who had not yet developed symptoms. Data on how the disease develops, measurable signs of its activity and the systems established to run trials could support future studies. She cautioned, however, that clinical reality had not changed for most patients diagnosed today.
Following Vallabh’s account of working with regulators, Julian Beach of the UK Medicines and Healthcare products Regulatory Agency offered the regulator’s perspective. Discussing the agency’s proposed approach to rare disease therapies, he stressed that “proportionate doesn’t mean less rigorous”. Listening to patients and continuing to monitor treatments were central; arrangements for how treatments would be paid for remained under discussion.
Shared approaches for individualised therapies
Bringing those scientific and regulatory questions together, Annemieke Aartsma-Rus, Professor of Translational Genetics at Leiden University Medical Center, presented ERDERA’s work on N-of-1 treatments, developed for individual patients. Published criteria for assessing patients and shared guidance support the development of personalised antisense oligonucleotides (ASOs), medicines designed to act on RNA.
She outlined plans to study different individualised treatments under a common trial structure, rather than designing every study from scratch. Learning from each case requires usable data and realistic conversations with families: treatment may slow progression or address particular symptoms without offering a cure.
Her closing message brought the discussion back to the support surrounding any individual medicine: “Just having the ASO is not enough. You need to have guidelines and processes.” That commitment must extend beyond development: “You need to have a plan to continue the treatment and to monitor it.”
The recording and further information will be available through the ERDERA Open Session page.
