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



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.

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  1. 1.

    Selby JV. Patient-Centered Outcomes Research Institute seeks to find out what works best by involving ‘end-users’ from the beginning. J Comp Eff Res. 2014;3(2):125–9.

    PubMed  Article  Google Scholar 

  2. 2.

    Fleurence R, Selby JV, Odom-Walker K, Hunt G, Meltzer D, Slutsky JR, Yancy C. How the Patient-Centered Outcomes Research Institute is engaging patients and others in shaping its research agenda. Health Aff. 2013;32(2):393–400.

    Article  Google Scholar 

  3. 3.

    Mirzaei M, Aspin C, Essue B, Jeon YH, Dugdale P, Usherwood T, Leeder S. A patient-centred approach to health service delivery: improving health outcomes for people with chronic illness. BMC Health Serv Res. 2013;13:251.

    PubMed Central  PubMed  Article  Google Scholar 

  4. 4.

    Kesselheim AS. Off-label drug use and promotion: balancing public health goals and commercial speech. Am J Law Med. 2011;37:225–57.

    PubMed  Google Scholar 

  5. 5.

    Buckley BM. Clinical trials of orphan medicines. Lancet. 2008;371:2051–5.

    PubMed  Article  Google Scholar 

  6. 6.

    Lagakos SW. Clinical trials and rare diseases. N Engl J Med. 2003;348:2455–6.

    PubMed  Article  Google Scholar 

  7. 7.

    Kesselheim AS, Myers JA, Avorn J. Characteristics of clinical trials to support approval of orphan vs nonorphan drugs for cancer. JAMA. 2011;305:2320–6.

    CAS  PubMed  Article  Google Scholar 

  8. 8.

    Mayer M. From access to evidence: an advocate’s journey. J Clin Oncol. 2003;21(20):3881–4.

    PubMed  Article  Google Scholar 

  9. 9.

    Miles MB, Huberman AM. Qualitative data analysis: an expanded sourcebook. Thousand Oaks: Sage Publications; 1994.

    Google Scholar 

  10. 10.

    Crabtree BF, Miller WL. Doing qualitative research. Thousand Oaks: Sage Publications; 1999.

    Google Scholar 

  11. 11.

    Rives Bogart K, Tickle-Degnen L, Joffe MS. Social interaction experiences of adults with Moebius syndrome: a focus group. J Health Psychol. 2012;17(8):1212–22.

    Article  Google Scholar 

  12. 12.

    Joachim G, Acorn S. Life with a rare chronic disease: the scleroderma experience. J Adv Nurs. 2003;42(6):598–606.

    PubMed  Article  Google Scholar 

  13. 13.

    Packman W, Wilson Crosbie T, Behnken M, Eudy K, Packman S. Living with Gaucher disease: emotional health, psychosocial needs and concerns of individuals with Gaucher disease. Am J Med Genet Part A. 2010;152A:2002–10.

    PubMed  Article  Google Scholar 

  14. 14.

    Packman W, Mehta I, Rafie S, Mehta J, Naldi M, Hart Mooney K. Young adults with MSUD and their transition to adulthood: psychosocial issues. J Genet Counsel. 2012;21:692–703.

    Article  Google Scholar 

  15. 15.

    Raina P, O’Donnell M, Rosenbaum P, Brehaut J, Walter SD, Russell D, Swinton M, Zhu B, Wood E. The health and well-being of caregivers of children with cerebral palsy. Pediatrics. 2005;115(6):e626–36.

    PubMed  Article  Google Scholar 

  16. 16.

    Hughes RA, Sinha A, Higginson I, Down K, Leigh PN. Living with motor neurone disease: lives, experiences of services and suggestions for change. Health Soc Care Community. 2005;13(1):64–74.

    PubMed  Article  Google Scholar 

  17. 17.

    Midtgaard J, Hansen MJ, Grandjean B. Modesty and recognition—a qualitative study of the lived experience of recovery from anal cancer. Support Care Cancer. 2009;17(9):1213–22.

    PubMed  Article  Google Scholar 

  18. 18.

    Corbin J, Strauss AL. Basics of qualitative research: grounded theory procedures and techniques. 3rd ed. New York: Sage; 2008.

    Google Scholar 

  19. 19.

    Bradley EH, Curry LA, Devers KJ. Qualitative data analysis for health services research: developing taxonomy, themes, and theory. Health Serv Res. 2007;42:1758–72.

    PubMed Central  PubMed  Article  Google Scholar 

  20. 20.

    Curry LA, Nembhard IM, Bradley EH. Qualitative and mixed methods provide unique contributions to outcomes research. Circulation. 2009;119(10):1442–52.

    PubMed  Article  Google Scholar 

  21. 21.

    Richards T, Montori VM, Godlee F, Lapsley P, Paul D. Let the patient revolution begin. BMJ. 2013;346:f2614.

    PubMed  Article  Google Scholar 

  22. 22.

    Menkes DB. Let the patient evolution continue. BMJ. 2013;346:f3554.

    PubMed  Article  Google Scholar 

  23. 23.

    van der Lee JH, Wesseling J, Tanck MW, Offringa M. Efficient ways exist to obtain the optimal sample size in clinical trials in rare diseases. J Clin Epidemiol. 2008;61:324–30.

    PubMed  Article  Google Scholar 

  24. 24.

    Kesselheim AS, Gagne JJ. Strategies for post-market surveillance of drugs for rare diseases. Clin Pharmacol Ther. 2014;95(3):265–8.

    CAS  PubMed  Article  Google Scholar 

  25. 25.

    Gupta S, Faughnan ME, Tomlinson GA, Bayoumi AM. A framework for applying unfamiliar trial designs in studies of rare diseases. J Clin Epidemiol. 2011;64(10):1085–94.

    PubMed  Article  Google Scholar 

  26. 26.

    Boström J, Yacoub A, Schramm J. Prospective collection and analysis of error data in a neurosurgical clinic. Clin Neurol Neurosurg. 2010;112(4):314–9.

    PubMed  Article  Google Scholar 

  27. 27.

    Berry DL, Hong F, Halpenny B, Partridge AH, Fann JR, Wolpin S, Lober WB, Bush NE, Parvathaneni U, Back AL, Amtmann D, Ford R. Electronic self-report assessment for cancer and self-care support: results of a multicenter randomized trial. J Clin Oncol. 2014;32(3):199–205.

    PubMed Central  PubMed  Article  Google Scholar 

  28. 28.

    GRADE Working Group. Grading quality of evidence and strength of recommendations. BMJ. 2004;328:1490.

    PubMed Central  Article  Google Scholar 

  29. 29.

    Dagher R, Johnson J, Williams G, Keegan P, Pazdur R. Accelerated approval of oncology products: a decade of experience. J Natl Cancer Inst. 2004;96(20):1500–9.

    PubMed  Article  Google Scholar 

  30. 30.

    Gater A, Thomson TA, Strandberg-Larsen M, Haemophilia B. impact on patients and economic burden of disease. Thromb Haemost. 2011;106(3):398–404.

    CAS  PubMed  Article  Google Scholar 

  31. 31.

    Daniel GW, Rubens EK, McClellan M. Coverage with evidence developmentfor Medicare beneficiaries: challenges and next steps. JAMA Intern Med. 2013;173(14):1281–2.

    PubMed  Article  Google Scholar 

  32. 32.

    Guest G, Bunce A, Johnson L. How many interviews are enough? An experiment with data saturation and variability. Field Methods. 2006;18:59–82.

    Article  Google Scholar 

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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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Correspondence to Aaron S. Kesselheim.

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Kesselheim, A.S., McGraw, S., Thompson, L. et al. Development and Use of New Therapeutics for Rare Diseases: Views from Patients, Caregivers, and Advocates. Patient 8, 75–84 (2015).

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  • Focus Group
  • Rare Disease
  • Focus Group Participant
  • Focus Group Meeting
  • Rare Disease Patient