title: Development and use of new therapeutics for rare diseases: views from patients, caregivers, and advocates.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Pharmacoepidemiology and Pharmacoeconomics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, 1620 Tremont Street, Suite 3030, Boston, MA, 02120, USA, akesselheim@partners.org.
authors.forename: Aaron S
authors.initials: AS
authors.lastname: Kesselheim
authors.forename: Sarah
authors.initials: S
authors.lastname: McGraw
authors.forename: Lauren
authors.initials: L
authors.lastname: Thompson
authors.forename: Kelly
authors.initials: K
authors.lastname: O'Keefe
authors.forename: Joshua J
authors.initials: JJ
authors.lastname: Gagne
mesh_terms: D017028:Caregivers / Q000523:psychology*; D055808:Drug Discovery; D005260:Female; D017144:Focus Groups; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D008297:Male; D010344:Patient Advocacy / Q000523:psychology*; D011788:Quality of Life; D035583:Rare Diseases / Q000175:diagnosis / Q000188:drug therapy* / Q000523:psychology; D014481:United States