Box 2.

Essential components for creating a successful and sustainable registry for rare diseases

Theoretical phase

  • Defining aims and objectives

  • Defining the registry population and observation period

  • Carrying out information gathering, research and clinical governance

  • Obtaining sponsorship and funding

  • Establishing the registry team

  • Identifying stakeholders and setting up collaborations

Technical phase

  • Designing the registry and ensuring data quality

  • Carrying out data management

Maintenance phase

  • Ensuring sustainability

  • Gathering feedback

  • Establishing authorship and contribution of published outcomes

  • See supplementary material S1 for a more detailed description of each domain with additional subsections.