Day 2 Highlights Advances in Clinical Trials, Rare Disease Specificities, and Patient Participation in Translational Research, 24-04-2026
The second day of the 2nd ERDERA Training for Young Advocates for Rare Diseases took place on 24 April 2026 at Institut Imagine, Paris, continuing the three-day programme dedicated to strengthening young patients’ understanding of research and clinical development.
The morning session focused on clinical trials, protocols, and pharmacovigilance in paediatrics. Participants were introduced to the fundamentals of clinical research by Manika Kreka (University Hospital Mother Teresa), followed by a detailed presentation of a clinical trial protocol example by Michaela Semeraro (AP-HP). The session concluded with Isabelle Desguerre (AP-HP), who addressed safety and monitoring in paediatric trials, including pharmacovigilance, off-label use, and side-effect surveillance.
After a short break, attention shifted to patient engagement in clinical trials. Jessie Dubief (EURORDIS-Rare Diseases Europe) presented the importance of patient-reported outcomes (PROMs), patient-reported experience measures (PREMs), and patient information sheets (PIS). This was followed by Ornela Cullufe (CVBF and KIDS Albania), who explained the difference between consent and assent in paediatric populations. The session concluded with Annagrazia Altavilla (Espace Éthique PACA-Corse, AP-HM) discussing consent and assent in the context of personal data processing.
The afternoon began with a focus on rare and genetic diseases in paediatric populations. Célia Crétolle and Léa Tricaud (AP-HP) outlined the challenges in diagnosis, research, and care, while Giulia Barcia (AP-HP) provided an overview of disease characteristics and clinical complexity in children.
A key highlight of the day was the round table discussion on patient participation in translational research, which brought together Annagrazia Altavilla (AP-HM), Suja Somanadhan (KIDS RAiN), Ines Salves (ANDO Portugal, ERN BOND), and Fatime Fejzullahi Derguti (KIDS Kosova). The interactive exchange enabled young participants to directly engage with experts on how patient perspectives can meaningfully contribute to research development.
The programme concluded with an introduction to INVENTS and the Patient Preference Questionnaire, presented by Donato Bonifazi (TEDDY Network), highlighting tools designed to better integrate patient voices into research and decision-making.
The session also included valuable testimonials from Aaisha Seddika Mumminah, Charlotte Clerc, and Valentina Jalby (INVENTS PEG, Patient Expert Group of the INVENTS Project), demonstrating how young patient perspectives can positively influence research design and implementation.
The day ended with free time for participants to explore Paris, continuing the spirit of exchange and connection that defines the ERDERA training experience.