Protecting the heart, preserving muscle function and maintaining independence are the treatment priorities for Duchenne muscular dystrophy (DMD) patients and caregivers, according to a new study published in Frontiers in Pharmacology.
Researchers in Belgium conducted a literature review and interviewed patients with DMD and caregivers to assess which treatment characteristics matter most to them, so that these treatment goals could be considered in the development of gene therapies.
“While gene therapy presents a promising new approach, it remains associated with uncertainties regarding its long-term benefits, risks, and acceptability among patients and caregivers,” the authors wrote. “Understanding which treatment characteristics matter most to patients and caregivers is crucial for optimizing future therapeutic development, regulatory decision-making, and healthcare policies.”
The team conducted 13 semi-structured virtual interviews with caregivers and patients with DMD aged 16 or older. Participants discussed their willingness to receive gene therapy (or have their child receive it) and ranked six gene therapy characteristics from least to most important.
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The participants also ranked the importance of 17 DMD treatment and disease characteristics identified in the literature review. Lastly, they were presented with two case studies based on gene therapy trial data, to explore participants’ values around corticosteroid or gene therapy.
The researchers then worked with an advisory board that included patients and doctors to develop a series of plain-language decision factors to use in future studies of DMD treatment preferences.
The top priorities for both patients and caregivers included maintaining muscle function, protecting the heart and preserving independence and self-care for as long as possible. Caregivers of older or non-ambulant patients rated breathing and ventilation as very important and those caring for younger patients were generally willing to consider gene therapy.
Patients, on the other hand, prioritized short-term side effects, cough strength and maintaining their current abilities. Some patients also noted they valued stopping steroid treatment.
The recommended treatment aspects for future studies included the type of treatment (gene therapy vs. steroids), effect on life expectancy, risk of life-threatening side effects, how many years ventilatory support can be postponed, how many years physical function can be maintained and how long and in how many patients each therapy has been studied.
The team hopes these findings will help align future trials and treatment decisions with what patients and their families value most in terms of outcomes, effects and trade-offs.
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