Development and Use of New Therapeutics for Rare Diseases: Views from Patients, Caregivers, and Advocates

  • Aaron S. Kesselheim
  • Sarah McGraw
  • Lauren Thompson
  • Kelly O’Keefe
  • Joshua J. Gagne
Original Research Article



Patients with rare diseases experience the health care system differently than patients with more common conditions. They can therefore provide important perspectives on the process of developing therapeutics for their conditions.


We conducted three in-person focus groups involving rare disease patients (n = 9), caregivers (n = 8), and advocates (n = 9). Focus group participants were asked to describe their experiences with a rare disease, what they would want to know about a new drug for the disease, what outcomes they believe should be assessed in drug testing, perceptions of off-label use of a drug for treating a rare disease, views on participation in clinical trials, and opinions of the US Food and Drug Administration’s (FDA’s) function. The coding structure was populated from the transcripts of the sessions, using Atlas.ti qualitative analysis software, and then analyzed for common themes.


Participants described the challenges of learning to live with a poorly understood condition for which treatment is limited. Rare disease patients were willing to accept certain risks in their care in the hopes of finding some benefit, but also expressed frustrations with the costs of their care and the lack of scientific data about their treatments. They were concerned that the development and testing of therapies should, as quickly as possible, yield effective treatments to advance their quality of life.


With limited therapeutic options, rare disease patients often considered off-label treatments or novel drugs that posed substantial risk. Nonetheless, rare disease patients generally appreciated the rigor of the research underlying the drugs and supported the FDA’s gatekeeping role.


Focus Group Rare Disease Focus Group Participant Focus Group Meeting Rare Disease Patient 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



This study was funded by a contract from the US Agency for Healthcare Research and Quality. Dr. Kesselheim is a Greenwall Faculty Scholar. The authors report no potential conflicts of interest.

Author contributions

Dr. Kesselheim is the guarantor for the content of the manuscript and was involved in the conception, preparation, revision, and submission of the manuscript. Dr. McGraw was involved in the data collection and preparation of the manuscript. Dr. Gagne was involved in the conception and revision of the manuscript. Ms. O’Keefe and Ms. Thompson were involved in the preparation and revision of the manuscript. All authors approve the final submitted version of the manuscript.


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Copyright information

© Springer International Publishing Switzerland 2014

Authors and Affiliations

  • Aaron S. Kesselheim
    • 1
  • Sarah McGraw
    • 2
  • Lauren Thompson
    • 1
  • Kelly O’Keefe
    • 1
  • Joshua J. Gagne
    • 1
  1. 1.Division of Pharmacoepidemiology and Pharmacoeconomics, Department of MedicineBrigham and Women’s Hospital and Harvard Medical SchoolBostonUSA
  2. 2.The Hastings CenterGarrisonUSA

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