Neuromuscular disorders

PREFER is conducting a patient preference study about the type of treatment patients with two hereditary neuromuscular disorders, myotonic dystrophy type 1, and mitochondrial disorders, prefer. The goal is to find out how patients and caregivers assess the risks and benefits in respect to both met and unmet needs, including the minimum acceptable benefit and maximum acceptable risks for potential future treatment options for neuromuscular disorders (NMD). Hypothetical treatment options will be presented.

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.

Working together

Rare disease research requires international collaboration. We work together with several patient organisations in English speaking countries. We thank them all for their support!

• Muscular Dystrophy Canada
• Myotonic: My cause, my cure (US)
• Myotonic Dystrophy Support Group (UK)
• Muscular Dystrophy New Zealand
• United Mitochondrial Disease Foundation (US)
• Lily foundation (UK)
• Mito Canada
• Muscular Dystrophy Association (US)
• Cure DM CIC (UK)
• Mito Foundation (Australia)
• Muscular Dystrophy UK
• Muscular Dystrophy New Zealand
• Myotonic Dystrophy Support Group (UK)

PUBLICATIONS

Jimenez-Moreno AC, van Overbeeke E, Pinto CA, Smith I et al. Patient Preferences in Rare Diseases: A Qualitative Study in Neuromuscular Disorders to Inform a Quantitative Preference Study, Patient, 27 February 2021

Jimenez-Moreno, Aura Cecilia; Pinto, Cathy Anne; Levitan, Bennett; Whichello, Chiara et al. A study protocol for quantifying patient preferences in neuromuscular disorders: a case study of the IMI PREFER Project [version 1; peer review: 1 approved], Wellcome Open Research, Vol. 5, no 253

van Overbeeke, Eline; Vanbinst, Inès; Jimenez-Moreno, Aura Cecilia; Huys, Isabelle. Patient Centricity in Patient Preference Studies: The Patient Perspective, Frontiers in Medicine, Vol. 7, no 93

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