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Engaging Participants in Rare Disease Research: A Qualitative Study of Duchenne Muscular Dystrophy

      Abstract

      Purpose

      Clinical trials in Duchenne muscular dystrophy (DMD) are increasing due to technical advances in genetics, muscle biology and muscle imaging, and translational science. Yet the ability to achieve and measure progress in clinical trials in DMD is severely constrained by recruitment difficulties and low levels of patient and family participation. Clinical trials that do not have full inclusion of patients may affect how well new therapies perform in clinical practice.

      Methods

      This study qualitatively investigated family-centered and clinician-based knowledge, attitudes, and perceptions of engagement in clinical research in DMD. Thirteen focus-group sessions (8 parent based and 5 clinician based) were held at 5 demographically and geographically diverse sites (Houston, Texas; Minneapolis, Minnesota; Pittsburgh, Pennsylvania; Sacramento, California; and Washington, DC). Thematic analysis was used for identifying patterns of meaning across the dataset.

      Findings

      Totals of 28 parents and 33 clinicians participated in innovative and thoughtful discussions regarding clinical research in DMD and approaches to eliciting family engagement. Five overarching themes emerged from our qualitative data. The theme of Information discussed the lack of accessible and coherent information, as well as the overabundance of fragmented information. The theme of Conversation demonstrated the importance of having open and in-depth dialogue about research with families in eliciting trust and obligation toward the research process. The Barriers and Incentives themes presented the parents’ and clinicians’ views of the life-altering sacrifices that families make to participate in research and ways to reduce these burdens. Under the Solutions theme, parents and clinicians also suggested innovative ways to incentivize families and clinics and thoughtful solutions to increase family engagement in research.

      Implications

      Effective recruitment for clinical studies in rare diseases requires a truly committed and engaged study team, as well as the necessary resources to overcome the multitude of barriers that families face. A clearly delineated recruitment plan, developed together with families, should be the standard operating procedure during clinical trial development. Protocols utilizing direct family-centered strategies for providing information and for recruiting research participants in studies in rare diseases are essential.

      Key words

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