IRDiRC is excited to share its latest interview featuring Maria Cavaller Belaubi (EURORDIS-Rare Diseases Europe, Spain), co-chair of the “Engagement of Young People Living with Rare Diseases in Therapy Development” Working Group. In this conversation, she offers thoughtful insight into why meaningful youth participation is essential in shaping healthcare systems that truly reflect patients’ needs.
Across the discussion, Maria highlights how young patients bring unique perspectives to research, policy, and care design. From navigating complex treatment journeys to advocating for inclusive decision-making spaces, their voices are not only valuable — they are transformative. She speaks about the group’s mission to strengthen opportunities for young people to engage confidently and collaboratively with healthcare stakeholders.
Watch now the video interview:
Readers will also discover:
- How patient engagement is evolving across the healthcare landscape
- The specific challenges young patients face when seeking representation
- Practical ways organizations can foster authentic, sustained involvement
- The vision driving the Working Group’s ongoing initiatives
Maria’s reflections underscore a powerful message: when young patients are invited to participate as partners, innovation becomes more responsive, compassionate, and impactful.
Read the full interview:
Q1: To start us off, could you briefly explain what the Young People’s Engagement (YPE) working group is, and how it supports IRDiRC’s mission and goals?
A1: The YPE Working Group focuses on engagement of young people in rare disease therapy development. It was created to support one of IRDiRC’s main goals: to develop new therapies for people living with a rare disease. Given that around 80% of rare diseases have onset in childhood, involving children and young people in therapy development is a key element to ensure that new therapies address their specific needs and challenges.
The group’s mission is also aligned with Goal 3 on methodologies to assess impact in therapy development. We aim to develop new, practical tools and frameworks that researchers, developers, clinicians, and patient organisations can use to support meaningful engagement of young people throughout therapy development.
Q2: When you say “young people,” who do you have in mind—and what kind of roles can they play in research and therapy development?
A2: “Young people” is a broad term. We follow the World Health Organization (WHO) classification, which encompasses children, adolescents, and youth up to 24 years of age, with sub‑groups roughly defined as children under 10, adolescents up to 19, and youth up to 24.
We do not focus only on chronological age. Some rare diseases affect communication or cognitive skills, so we consider developmental age and communication abilities. Tools that might be suitable for a five‑year‑old need to be assessed against the specific condition and abilities of the individual. Roles vary—from contributing to priority setting and reviewing materials to informing study design—always aligned with age/developmental stage and appropriate consent/assent processes.
Q3: Many rare genetic conditions appear in childhood. How does lived experience—growing up with a condition versus receiving a later diagnosis—shape how you engage young people?
A3: This is central to our work. We aim to guide developers, researchers, clinicians, and patient organisations on how to include young people appropriately. Beyond age, lived experience matters. It is different to engage someone who has always lived with the condition compared with an adolescent who was healthy until a recent diagnosis. This affects which engagement activities are relevant and how they should be conducted.
In practice, you might tailor activities for newly diagnosed groups versus those who have lived with the condition all their lives. Even among adolescents, some may have prior experience participating in research or advisory activities, while others have none. The engagement approach should reflect these differences.
Q4: What are the biggest challenges in involving children and young people meaningfully?
A4: Engaging children and young people is not happening systematically as it happens in adults, partly because there is no one‑size‑fits‑all approach. It depends on the condition, age group, and the activity you want to conduct. There are also legal and ethical requirements. With adults, consent is more straightforward. For children and younger adolescents, parental or guardian consent (and the young person’s assent) is needed, and requirements vary by country.
Communication abilities also differ by age. With adolescents, interviews or group discussions may work well. With children around five or six years old, other methods—such as using images or short videos—may be necessary to enable engagement.
Q5: Without getting too technical, how do you approach this in practice? What frameworks, indicators, or tools guide the work—and can you share a few examples?
A5: We began with a landscape analysis of existing initiatives—there is a lot happening internationally and strong willingness to engage young people. We also gathered case studies from our experts across regions, including Africa, Australia, the Americas, and Europe.
From this analysis, we developed practical recommendations and tools. One is a decision tree to guide teams that want to engage young people: start with the activity context; define the population (age and lived experience with the disease); and then choose appropriate methods and tools. Best practices reflect expert experience—for example, interviews may suit adolescents, whereas more visual, interactive methods may suit younger children. These elements are captured in the decision tree and a checklist detailing what to consider.
Q6: How will this work connect with IRDiRC’s broader activities and other Task Forces?
A6: The Working Group was set up together with Anneliene Jonker, as both of us serve on the Therapies Scientific Committee. The work has been supported across IRDiRC’s committees as a transversal topic. We are planning dissemination so that other groups can implement the outputs. We also have strong support from patient and regulatory committees, as we want this work to be implemented across IRDiRC’s activities.
Q7: What does such a dissemination plan involve, and who are you hoping to reach?
A7: Dissemination is very important. We do not want to stop at an academic publication. We have created practical tools meant for implementation. The group is brainstorming dissemination strategies and opportunities, including conferences. For instance, the outcomes of this work have been recently presented at the World Orphan Drug Congress 2025.
We also want to go beyond developers, researchers, and clinicians, and explore how this could inform regulatory decision‑making institutions. Agencies such as the European Medicines Agency (EMA), the U.S. Food and Drug Administration (FDA), and the International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use (ICH) are working on patient experience data and patient‑focused drug development guidelines. The EMA has just published a draft reflection paper on the use of patient experience data, and we want to see how our work—how developers and clinicians engage with patients and collect such data—can fit into regulatory contexts.
We see opportunities to present through EMA and related committees, and to focus on patient groups and young patient activities through networks such as European Rare Diseases Research Alliance (ERDERA) and others. There are youth advisory bodies in different geographies (e.g., Kids Barcelona and similar groups globally such as ICAN) and training opportunities (e.g., TEDDY Network, EURORDIS schools, EUPATI, etc.). We hope this work will be adopted by ongoing initiatives, including European Reference Networks—some already have youth groups—and we are considering integration into existing toolboxes to increase uptake.