A Comparison of Caregiver and Patient Preferences for Treating Duchenne Muscular Dystrophy

Abstract

Background and Objectives Caregivers routinely inform medical and regulatory decision making in rare pediatric diseases. While differences in treatment preferences across caregivers and patients have been observed for Duchenne muscular dystrophy, this evidence was limited by small samples of patients and results were confounded by patient age and disease progression. We tested caregiver and patient preference concordance for treating Duchenne. Methods Preferences and demographic/clinical information from 115 caregivers and 107 patients were collected in an international study (response = 80%) using a previously developed discrete-choice experiment consisting of 12 experimentally controlled choice tasks. Each task presented two profiles that varied across four attributes: disease progression, drug failure probability, kidney damage risk, and fracture risk. Caregivers and patients were matched 1:1 based on patient age. We tested for concordance across each task and by comparing caregivers' and patients' maximum acceptable risk of drug failure, kidney damage, and fracture for a slowing of disease progression. ResultsThe final analysis included 77 caregivers and 77 patients. No differences were observed in nationality (p = 0.969), disease stage (p = 0.180), or demographic/clinical factors (p = 0.093-0.857); however, patients were more optimistic (p = 0.030). Caregivers and patients chose similarly across tasks (p = 0.101-0.993). To slow disease progression by 1 year, caregivers and patients would tolerate a 9% and 11% increase in drug failure probability, respectively (p = 0.267). Alternatively, they would accept a 3% and 4% increase in the risk of kidney damage (p = 0.719) or a 15% and 20% increase in the risk of fracture (p = 0.534). Conclusions Caregivers and patients had concordant preferences for treating Duchenne. Providers and regulators can trust both caregiver and patient report of preferences to inform medical decision making.

Diagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed‐methods study

“…Numerous approaches outside of direct‐elicitation can be used to study preferences in health, including but not limited to quantitative methods such as discrete‐choice experiments and best‐worst scaling, as well as qualitative methods (Medical Device Innovation Consortium (MDIC), n.d. ). The Duchenne community has been a leader in measuring preferences, (Bridges et al, 2019 ; Crossnohere, Fischer, Crossley, Vroom, & Bridges, 2020 ; Crossnohere, Fischer, Lloyd, Prosser, & Bridges, 2021 ; Hollin, Peay, Apkon, & Bridges, 2017 ; Hollin, Peay, Fischer, Janssen, & Bridges, 2018 ; Peay, Hollin, & Bridges, 2016 ; Peay, Hollin, Fischer, & Bridges, 2014 ; Schuster, Crossnohere, Fischer, Furlong, & Bridges, 2022 ) including those specific to inform therapeutic benefit–risk decisions (Bridges et al, 2018 ; Crossnohere, Fischer, Vroom, Furlong, & Bridges, 2022 ). Future research should apply these methods to study preferences for NBS.…”

“…Although signs of Duchenne may be visible as early as when boys begin walking, Duchenne diagnosis typically occurs around the age of four to five, and after a two-year diagnostic delay (van Ruiten, Straub, Bushby, & Guglieri, 2014;Wong, McClaren, Archibald, et al, 2015). Variation in diagnostic age has been observed within (Holtzer et al, 2011) and across countries (D'Amico, Catteruccia, Baranello, et al, 2017), and by race/ethnicity (Counterman, Furlong, Wang, & Martin, 2020).…”

Healthcare Stakeholder Perspectives on a Value Assessment Approach for Duchenne Muscular Dystrophy Therapies

“…Patient advocates and clinicians recognized value of hope, real option value, equity, and scientific spillovers as highly important for determining the value of DMD therapies. Patient advocates and clinicians agreed that individuals and families with Duchenne live with uncertainty, which increases with disease progression [31][32][33][34]. Individuals with Duchenne and caregivers will take the potential opportunity for gains in strength and cardiac and pulmonary function over other risks and uncertainties associated with treatments [32].…”

Comparing Preferences for Disease Profiles: A Discrete Choice Experiment from a US Societal Perspective

“…Characteristics related to DMD were therefore considered in selecting attributes to assess, to better understand their relative importance from the perspective of members of the general population. While the preferences of DMD patients and caregivers for treatment attributes have been explored qualitatively [ 27 ] and quantitatively [ 28 – 30 ], these studies did not focus on understanding the benefit-risk trade-offs patients and caregivers would be willing to make between relevant attributes of non-curative gene therapy, nor preferences for disease attributes presently unaccounted for in value assessments. The present study therefore adds to this literature, and builds on a prior qualitative study that investigated societal perspectives on disease and treatment attributes characterizing rare diseases [ 10 ].…”