Engagement of Young People Living with Rare Diseases in Therapy Development

IRDiRC - Engagement of Young People Living with Rare Diseases in Therapy Development

Introduction

Engaging young people in research is essential for advancing therapies for rare diseases and from a research perspective has been shown to improve inclusion and retention in clinical trials and research outcomes. Despite the existence of different global initiatives supporting youth involvement, there is a lack of clear and harmonized guidance on how to effectively engage young people in rare disease research, including in the design and execution of clinical studies.

Objectives

  • Understand and map out different patient engagement activities in therapy development by age groups and determine if there are differences if the young people lived with the condition their entire life or if they were diagnosed at a later age;
  • Understand existing methodologies, tools and processes for young people engagement and identify the gaps;
  • Create new opportunities for engaging young people in the whole process of therapy development.

Timeline

Recruitment and assembly of Working Group members (Q1, 2025)

Kickoff meeting (Q1, 2025)

Members

  • Maria Cavaller Bellaubi – EURORDIS, Spain (Co-Chair)
  • Anneliene Jonker – University of Twente/Duchenne Parent Project, Netherlands (Co-Chair)
  • Daniel O’Connor – The Association of the British Pharmaceutical Industry (ABPI), UK (Co-Chair)
  • Ainara Gomez Puigvert – Hospital Clinic of Barcelona, Spain
  • Diana Kwast-Hoekstra – VSOP – Patient Alliance for Rare and Genetic Diseases, Netherlands
  • Donato Bonifazi – Consorzio per Valutazioni Biologiche e Farmacologiche (CVBF), Italy
  • Francis Crawley – Good Clinical Practice Alliance Europe (GCPA), Belgium
  • Gul Unsel-Bolat – Balikesir University, Faculty of Medicine, Turkiye
  • Irida Mpiniadaki – Young patients association representative, Greece
  • Karsten Vanden Wyngaert – Ghent University Hospital, Belgium
  • Louise Kearney – Fortrea Development Ltd, UK
  • Michelle Farrar – Sydney’s Children’s Hospital, Australia
  • Sabina Schmidt Goldstein-Becerra – The International Children’s Advisory Network (iCAN), USA
  • Segolene Gaillard – AuRA Rare Disease Network/Kids France, CHU Lyon, France
  • Theodora Weisz – Ultragenyx Europe, Switzerland
  • Trudy Nyakambangwe – Child and Youth Care Zimbabwe, Zimbabwe