The Patient Registry is now recognized as a vital tool in the process of drug development, evaluating the safety and efficacy of therapies, connecting patients and families affected by rare disorders, and as a research and educational resource. Recently, there has been a significant surge in registry building activity among the multiple stakeholders in the rare disease community. However, it is important to have a clear understanding of design, implementation, and resource considerations that are the foundations of a successful registry.

Global Genes presented a two-part webinar series entitled “Understanding Rare Disease Registries,” which covered the topics that every organization involved in planning a registry should consider.

Part One (recorded webinarPDF slides)

Part One of the series covered the different types of registries and features of a robust patient registry, as well as options currently available for building a new registry or enhancing an existing one. The expert panelists will discuss resources for questionnaire design, collecting natural history information, considerations for drug development and the FDA, and informed consent and data sharing.


  • Dr. Stephen Groft, Director, Office of Rare Diseases Research
  • Dr. Marshall Summar, Chief of the Division of Genetics and Metabolism
  • Megan O’Boyle, Parent Advocate, Phelan-McDermid Syndrome Foundation

Part Two (recorded webinarPDF slides)

Part Two included a demonstration of available registry platforms, and explored selected topics in greater depth, including questions or issues submitted by participants during Part One of the webinar series.



Moderator:  Dr. Shira Kramer, Epidemiologist and President of GlobalEpi Research



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