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PLoS One. 2019 May 1;14(5):e0213649. doi: 10.1371/journal.pone.0213649. eCollection 2019.

Gene therapy as a potential therapeutic option for Duchenne muscular dystrophy: A qualitative preference study of patients and parents.

Author information

Center for Newborn Screening, Ethics, and Disability Studies, RTI International, Research Triangle Park, North Caroilina, United States of America.
Parent Project Muscular Dystrophy, Hackensack, New Jersey, United States of America.
Lion Therapeutics, Asklepios BioPharmaceutical, Inc., Research Triangle Park, North Carolina, United States of America.
Solid Biosciences, Cambridge, Massachusetts, United States of America.
Center for Duchenne Muscular Dystrophy at UCLA, University of California Los Angeles, Los Angeles, California, United States of America.
Duke University School of Medicine, Durham, North Carolina, United States of America.
Rare Disease Research Unit, Pfizer, Inc, Cambridge, Massachusetts, United States of America.
Stanford Healthcare and ClinGen, Sanford, California, United States of America.
RTI Health Solutions, RTI International, Research Triangle Park, North Carolina, United States of America.



Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder that causes progressive weakness and early death. Gene therapy is an area of new therapeutic development. This qualitative study explored factors influencing parents' and adult patients' preferences about gene therapy.


We report qualitative data from 17 parents of children with DMD and 6 adult patients. Participants responded to a hypothetical gene therapy vignette with features including non-curative stabilizing benefits to muscle, cardiac and pulmonary function; a treatment-related risk of death; and one-time dosing with time-limited benefit of 8-10 years. We used NVivo 11 to code responses and conduct thematic analyses.


All participants placed high value on benefits to skeletal muscle, cardiac, and pulmonary functioning, with the relative importance of cardiac and pulmonary function increasing with disease progression. More than half tolerated a hypothetical 1% risk of death when balanced against Duchenne progression and limited treatment options. Risk tolerance increased at later stages. Participants perceived a 'right time' to initiate gene therapy. Most preferred to wait until a highly-valued function was about to be lost.


Participants demonstrated a complex weighing of potential benefits against harms and the inevitable decline of untreated Duchenne. Disease progression increased risk tolerance as participants perceived fewer treatment options and placed greater value on maintaining remaining function. In the context of a one-time treatment like gene therapy, our finding that preferences about timing of initiation are influenced by disease state suggest the importance of assessing 'lifetime' preferences across the full spectrum of disease progression.

Conflict of interest statement

Parent Project Muscular Dystrophy (PPMD) received funding for this project from two companies: Solid Biosciences and Pfizer Inc. Holly Peay, Janice Tzeng and Carol Mansfield are employees of RTI International, which was contracted by PPMD to complete this work; Holly Peay receives financial support from Merck, Inc and Shire outside the submitted work; Carl Morris and Valeria Ricotti are employees of Solid Biosciences; Edward Smith has received clinical trial planning compensation from Pfizer, Inc and serves as PI and receives salary support for an active Duchenne muscular dystrophy gene therapy trial; Katherine Beaverson is an employee of Pfizer, Inc; Sharon Hesterlee was an employee of Pfizer Inc, at the time of the research and is now an employee of Asklepios BioPharmaceutical; Ryan Fischer is an employee of PPMD and Colin Rensch is an unpaid volunteer for PPMD. Authors Amy Martin and Hannah Wand have declared that no competing interests exist. This does not alter our adherence to PLOS ONE policies on sharing data and materials.

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