Developing interactions with industry in rare diseases: lessons learned and continuing challenges

Susan A. Berry, Curtis R. Coughlin, Shawn McCandless, Robert McCarter, Jennifer Seminara, Mark Yudkoff, Cynthia LeMons

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


The National Institutes of Health (NIH) established the Rare Diseases Clinical Research Network to address the unique challenges of performing research on rare diseases. The Urea Cycle Disorders Consortium (UCDC) was one of the original ten consortia established. The UCDC represents a unique partnership among clinicians, patients, and the NIH with a primary goal of increasing the development of therapeutics that improve patient outcomes for persons affected with a UCD. Based in part on financial incentives associated with the Orphan Drug Act biopharmaceutical and investment entities have an intense interest in engaging with research consortia like the UCDC, which have compiled potentially valuable longitudinal data characterizing outcomes in a relatively large number of affected individuals. We describe the UCDC experience and the bases for evaluating partnerships with such private entities. We review early industry interactions, the development of policies and procedures, and describe the establishment of an Industry Relations Committee, including guiding principles. Challenges encountered, particularly in the transition when products are approved, and potential solutions are discussed. By building a framework for industry partnerships that guides us in resolving inevitable challenges, we can enthusiastically pursue novel and promising collaborations that can lead to breakthroughs in therapeutic interventions for patients.

Original languageEnglish (US)
Pages (from-to)219-226
Number of pages8
JournalGenetics in Medicine
Issue number1
StatePublished - Jan 1 2020

Bibliographical note

Funding Information:
The Urea Cycle Disorders Consortium (UCDC; U54HD061221) is a part of the National Institutes of Health (NIH) Rare Disease Clinical Research Network (RDCRN), supported through collaboration between the Office of Rare Diseases Research (ORDR), the National Center for Advancing Translational Science (NCATS), and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). The Urea Cycle Disorders Consortium is also supported by the O’Malley Foundation and the Kettering Fund. We would specifically like to acknowledge feedback from NICHD program officer Danuta Krotoski and science officer Tracy King.

Publisher Copyright:
© 2019, American College of Medical Genetics and Genomics.


  • pharmaceuticals
  • principles
  • rare diseases
  • therapeutics
  • urea cycle disorders

PubMed: MeSH publication types

  • Journal Article
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't


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