Neuromuscular disorders

PREFER will ask patients and caregivers with two hereditary neuromuscular diseases: myotonic dystrophy type 1, and mitochondrial disorders. The goal of this study is to elicit patient preferences relative importance with respect to met and unmet health needs and assess benefit to risk trade-offs, relative importance, minimum acceptable benefit and maximum acceptable risks for potential future treatment options in neuromuscular disorders (NMD). Hypothetical treatment options will be presented to both patients and people who are caregivers (of patients with NMD). These options will include benefits for unmet health needs identify as more important, and risks identified as feared the most by patients themselves.

Like all neuromuscular disorders, myotonic dystrophy type 1 and mitochondrial disorders are uncommon, serious and debilitating, weakening muscles. They are also progressive, the prognosis is poor and the treatment options (if there are any) are few. Myotonic dystrophy type 1 and mitochondrial disorders have different causes, but the symptoms are similar. In addition to muscle weakness, these diseases affect other systems and organs, including the central nervous system, and can lead to reduced cognitive functions, learning difficulties, daytime sleepiness and fatigue. Symptoms can start showing in early childhood, or later in life. There are no specific cures, and these diseases can affect more than one family member in each generation. People who are affected by neuromuscular diseases sometimes struggle to perform some of their daily activities and some rely on caregivers, which is why PREFER is also asking for their preferences. Very little has been done in the NMD field about studying patient preferences but due to the nature of these rare diseases and how priorities in the field can differ between stakeholders, this is a population in a sensitive stage to perform patient preference studies.

Three different preference methods (Q-methodology, Best-Worst Scaling (BWS) type 2 and Discreet Choice Experiment (DCE)) will be included. The first two have been considered simpler (e.g. less cognitively demanding for the responder) while the last has been considered a more complex method (e.g. more rigorous and in depth).Comparison will allow the identification of suitable preference methods for populations that may present cognitive limitations.

Fact sheet

Therapeutic area Neuromuscular disorders
Study led by Newcastle University
PREFER leads team Grainne Gorman

Ardine de Wit
Cathy Anne Pinto
MPLC decision point of interest Pre-discovery
PREFER case study acronym NMD
Clinical objectives Elicit and quantify patient preferences including benefit to risk trade-offs (e.g. relative importance, minimum acceptable benefit (MAB), maximum acceptable risk (MAR)) applicable for future NMD treatments. 
Patients from United Kingdom
Methods in Qualitative study Semi-structured individual interviews
Focus Group Discussion
Dyadic interviews
Methods in Quantitative study Discrete Choice Experiment (DCE)
Q-method
Best-worst scaling case 2
End-date qualitative data collection June 2019
End-date quantitative data collection Q1/Q2 2020