OBJECTIVES: With gene replacement therapy for Duchenne muscular dystrophy (DMD) being evaluated in phase 3 clinical trials, a crucial step is made to address numerous unmet needs of these patients. Since this therapy is associated with uncertainties regarding the benefits, side effects, and risks, this research wants to quantify the patient treatment needs and their acceptability towards treatment alternatives. The final objective is to inform regulatory, HTA/payer (reimbursement), and clinical practice decision making.

METHODS: This quantitative study is designed to elicit patient and caregiver preferences regarding DMD treatment using the threshold technique as preference elicitation method. It consists of an online survey to be distributed across Europe, developed in collaboration with a multi-stakeholder advisory board with patient representatives, clinicians, and preference method experts. The development of the attributes and attribute levels is the first crucial step in the design and conduct of a patient preference elicitation study. Attribute identification was based on a literature review, previous qualitative patient preference study (n=7 patients, n=11 caregivers), and clinical trial data.

RESULTS: Of the 48 unique identified attributes six attributes were selected, described in a patient-friendly manner, and accompanied with clinically relevant levels. These attributes focus on the type of therapy, the effect on life expectancy, the risk of life-threatening side effects, the years that ventilatory support is postponed, the number of years maintaining current mobility, and the amount of information that is available about the benefits and risks of the therapy.

CONCLUSIONS: This first phase of the quantitative preference study revealed the treatment outcomes that have a significant impact for DMD patients. This study demonstrates the practical implementation and usefulness of qualitative research with patients to guide the identification and development of attributes and levels for inclusion in subsequent quantitative stated patient preference surveys and later decision making.