The World Orphan Drug Congress (WODC) 2025 in Amsterdam brought together researchers, policymakers, patient advocates, and industry leaders to explore how we can better support people living with rare diseases. With over 400 million people affected globally and most conditions lacking approved treatments, the event focused on smarter research, fairer access and stronger patient involvement.
One major theme was how to make the most of data. Experts shared how artificial intelligence (AI) and machine learning are helping us better understand rare diseases, especially when patient numbers are small. Projects are exploring how AI can combine genetic, clinical and social data to predict how diseases progress and how treatments might work. These tools could help speed up research and make clinical trials more efficient.
Digital technology also took centre stage. With rare diseases often being complex, chronic and affecting multiple parts of the body, the average time from first symptoms to diagnosis is still around five years. AI is helping shorten this journey by quickly reviewing medical records, spotting patterns, and supporting doctors in making faster, more accurate diagnoses. Tools like telemedicine, wearable devices, and patient portals are expanding how care is delivered, though experts say more evidence is needed to show how well they might work.
Young people shared their views on digital tools and AI. They see the potential but raised concerns about privacy, safety and the need for human oversight. They also pointed out that current research often overlooks important issues like hearing and vision problems, which matter deeply to patients. Their message was clear: digital tools can make care more personal and efficient, but we need shared standards, better education, and strong collaboration to make sure they’re used safely.
Patient voices were front and centre. Young people, especially adolescents, are being consulted to help design research and give feedback on how trials affect their lives. One young patient advocate explained how patients can help shape clinical guidelines and why their lived experience matters. There was also a strong call to include mental health support in rare disease care. A survey showed that emotional distress is common, especially among women and caregivers, and many struggle to find professionals who understand their condition.
Newborn screening was another hot topic. Access to these tests varies widely across Europe, for example, Italy screens for over 50 conditions, while the UK screens for just nine. Experts stressed that early diagnosis can save lives and reduce long-term healthcare costs. Poland’s success in rolling out screening for spinal muscular atrophy (SMA) was highlighted as a model for others.
Regulation and policy also featured highly. Rare diseases often don’t fit into traditional healthcare systems, making it hard to approve new treatments or measure their value. Speakers called for more flexible rules and better ways to assess the impact of treatments, especially in children where measuring quality of life is challenging. Legal frameworks that give patient organisations a formal role in decision making were also discussed.
Looking ahead, the rare disease treatment pipeline is growing, with exciting developments in gene therapy, mRNA, and CRISPR. But science is moving faster than regulation, so there’s a need for early collaboration between researchers, regulators and patients. The shift from treating symptoms to preventing disease altogether is on the horizon.
In summary, the meeting highlighted the importance of:
Using smart data tools to improve research
Involving patients, especially young people in every step
Making mental health support a standard part of care
Expanding newborn screening across Europe
Updating regulations to keep pace with science
Sharing knowledge and working together across borders
The message was clear: rare disease care is evolving, and with collaboration, compassion and innovation, we can make a real difference.
Individual presentation summaries
Making rare disease research smarter and more inclusive
This session brought together several teams working to improve how we study and treat rare diseases. Because these conditions affect small numbers of people, traditional research methods often don’t work well. So, the focus was on using smarter tools, better data, and involving patients more directly.
EDRA talked about using data from hospitals and social systems to understand how treatments really affect people’s lives. They’re using artificial intelligence (AI) to help spot diseases earlier, track how they progress, and find better ways to measure treatment success.
Methodological support explained how hard it is to do research when there are only a few patients. They’re developing new ways to combine different types of data like genetics and symptoms to get clearer results. They also shared tools for running trials with just one patient, which is sometimes the only option for very rare conditions.
Invents Project, is working on ways to use shared data from different sources to predict how treatments might work. What made their approach special was involving teenagers with rare diseases in designing the research. These young people helped make sure the studies reflect real-life needs, including mental health support.
Realise Project brought together patient groups, scientists, and regulators to improve how trials are planned and approved. They’re testing new methods to make studies more practical and meaningful, especially when working with very small patient groups. Their goal is to make sure everyone involved, patients, doctors, and policymakers can work together from the start.
Patient Involvement in Clinical Guidelines
The session emphasised the importance of involving patients in clinical guideline development, especially in rare diseases. It outlined different patient profiles and recruitment strategies, advocating for participatory approaches and training and highlighted the need for flexible engagement and the value of patient-generated evidence in shaping meaningful recommendations.
Using AI and Digital Tools to Improve Rare Disease Care
This part of the session explored how artificial intelligence (AI) and digital technology can help improve care for people with rare diseases. With 8% of the global population affected, and most conditions being complex and without approved treatments, the journey from first symptoms to diagnosis can take years. AI can help speed this up by quickly reviewing medical data, spotting patterns, and supporting doctors in making earlier and more accurate diagnoses. It’s already helping identify undiagnosed patients with conditions like Fabry disease. Tools like telemedicine, wearable devices, and patient portals are also expanding how care is delivered, though more evidence is needed to show how well they work. Young people shared their views too, they see the potential of AI but raised concerns about privacy, safety, and the need for human oversight. They also highlighted that current research tools often miss important things like hearing and vision problems. The message was clear: digital tools can make care more personal and efficient, but we need shared standards, better education, and strong collaboration to make sure they’re used safely and fairly across Europe.
Newborn Screening Panel Discussion
This session addressed disparities in newborn screening across Europe. Speakers from policy, patient advocacy, and academia discussed the importance of early diagnosis and treatment, the lack of harmonisation across countries, and the need for EU-level coordination. Poland’s success in implementing SMA screening was showcased. Barriers included political will, infrastructure, and fragmented regulatory processes.
Mental Health in Rare Disease Patients
Pam Cusick presented findings from a survey of nearly 1,000 rare disease patients and caregivers. Emotional distress was prevalent, especially among women. Many struggled to find mental health professionals who understood rare diseases. Informal support networks were vital, but there was a clear need for rare-aware mental health resources and systemic support.
Engaging Young People in Research
Daniel O'Connor discussed initiatives to involve young people in rare disease research. He emphasised co-designing materials, ethical engagement, and long-term partnerships. The participatory framework includes accessible design, team-based collaboration, and capacity building for both youth and researchers.
Legal Toolkit for Patient Advocacy
This session explored legal frameworks to enhance patient organisation involvement in health policy. It advocated for formal recognition of patient organisations in law and highlighted Czech Republic’s registry model. The goal is to ensure meaningful participation in HTA and regulatory processes.
Evidence-Based Advocacy – Rare Barometer (Eurodis)
The Rare Barometer program transforms patient experiences into data through global surveys. It supports advocacy by providing anonymised, disease-specific insights. Patient organisations can access results if they meet participation thresholds (more than 30 people), enabling data-driven policy engagement.
Rare Disease Pipeline
This session reviewed emerging treatments, including gene therapy, mRNA, and CRISPR. It stressed the need for adaptive regulatory approaches and early engagement. Challenges include small populations, personalised endpoints, and long-term efficacy uncertainties. The shift from treatment to prevention was noted.
Psychologically Informed Research
Speakers discussed embedding mental health support in rare disease research. They highlighted the emotional toll of participation, especially for children and families. Recommendations included inclusive language, counselling resources, and better planning to reduce trauma and improve patient experience.
Understanding Research Challenges in Children with Rare Diseases
This part of the session looked at how hard it can be to gather useful information when studying rare diseases in children. Because every child is different and these conditions are often complex, it’s tough to measure things like quality of life or how much help caregivers need. Researchers talked about how current tools don’t always capture the full picture and stressed the need for better ways to compare results and understand what treatments really mean for children and their families.
HTAI – Fair Assessments
The HTAI session addressed the limitations of conventional HTA for ultra-orphan drugs. It proposed multi-stakeholder approaches to qualify disease burden and generate meaningful evidence. Emphasis was placed on societal impact, caregiver costs, and the need for flexible appraisal frameworks.
