Data Sources and Registries

IRDiRC - Data Sources and Registries

Introduction

Rare disease registries serve as valuable tools for enhancing clinical care and advancing research. However, registries also exhibit significant qualitative, structural, and operational variations that impact their utility as evidence sources.  The convergence of technological advancements, quality framework development, and new data-sharing models and sources makes this an opportune time to reexamine the role of registries and real-world evidence in rare diseases and the importance of generating robust data to inform clinical development, regulatory decisions, and patient outcomes. Understanding utility and success factors of research infrastructures, such as registries, cohort studies, and real-world evidence frameworks, in different geographies is essential to accelerate innovation and improve care for rare disease populations.

Objectives

  • Articulate the current consensus on how to achieve a high-utility, standardized data ecosystem that accelerate treatment development, enhance regulatory decision-making, and improve patient outcomes for rare diseases.
  • Compile lessons learned and new strategies including but not limited to registries to exploit data sources that support regulatory and funding decisions 
  • Explore implications of technological evolution and common data infrastructure for legacy registries
  • Highlight the source of inequities across healthcare systems balancing between completeness and feasibility 

Timeline

Recruitment and assembly of the Task Force Group (Q1, 2026)

Kickoff Meeting (Q2, 2026)

Members

  • Vinciane Pirard (Co-Chair) – Sanofi, Belgium
  • Estelle Michael (Co-Chair) – UCB, Belgium
  • Anthony Brookes – Leicester University, UK
  • Barbara Vona – University Medical Center Gottingen, Germany
  • Claudio Carta – National Health Institute, Italy
  • Didu (Sandi) Kariyawasam – Sydney Children’s Hospital, Australia
  • Frédéric Dallaire – University of Sherbrooke, Canada
  • Gong Mengchun – Guangzhou Women and Children’s Medical Center, China
  • Segundo Mariz – Retired from EMA, Spain
  • Lore Van Espen -Sciensano, Belgium
  • Manzi Ndamukunze – Centre-Alliance for rare disease in Rwanda, Rwanda
  • Maria Cavaller Bellaubi – AstraZeneca, Spain
  • Rebecca Leary – Newcastle University, UK
  • Robert Allaway – Sage Bionetworks, USA
  • Sharon Terry – Genetic Alliance, USA
  • Solange Roumengous – Assistance Publique – Hopitaux de Paris (AP-HP), France
  • Tudor Groza – Bioinformatics Institute, A*STAR, KK Women’s and Children’s Hospital, Singapore