Patient Preferences in Rare Diseases: A Qualitative Study in Neuromuscular Disorders to Inform a Quantitative Preference Study.

A Cecilia Jimenez-Moreno,Bennett Levitan,Eline Van Overbeeke,Grainne Gorman,Ian Smith,Chiara Whichello,James Ormrod,Esther W De Bekker-Grob,Cathy Anne Pinto,Kristin Bullok,Jenny Sharpe,G Ardine De Wit,Isabelle Huys

doi:10.1007/s40271-020-00482-z

Abstract

IntroductionIt has become increasingly important to include patient preference information in decision-making processes for drug development. As neuromuscular disorders represent multisystem, debilitating, and progressive rare diseases with few treatment options, this study aimed to explore unmet health care needs and patient treatment preferences for two neuromuscular disorders, myotonic dystrophy type 1 (DM1) and mitochondrial myopathies (MM) to inform early stages of drug development.MethodsFifteen semi-structured interviews and five focus group discussions (FGDs) were held with DM1 and MM adult patients and caregivers. Topics discussed included (1) reasons for study participation; (2) disease signs/symptoms and their impact on daily lives; (3) top desired benefits; and (4) acceptability of risks and tolerance levels for a hypothetical new treatment. Data were analyzed following a thematic ‘code’ approach.ResultsA total of 52 participants representing a wide range of disease severities participated. ‘Muscle strength’ and ‘energy and endurance’ were the disease-related unmet needs most often mentioned. Additionally, improved ‘balance’, ‘cognition’ and ‘gut function’ were the top desired treatment benefits, while ‘damage to the liver, kidneys or eyes’ was the most concerning risk. Factors influencing their tolerance to risks related to previously having experienced the risk and differentiation between permanent and temporary risks. A few differences were elicited between patients and caregivers.ConclusionsThis qualitative study provided an open forum to elicit treatment-desired benefits and acceptable risks to be established by patients themselves. These findings can inform decisions for developing new treatments and the design of clinical trials for DM1 and MM.Electronic supplementary materialThe online version of this article (10.1007/s40271-020-00482-z) contains supplementary material, which is available to authorized users.

Highlights

It has become increasingly important to include patient preference information in decision-making processes for drug development
Patient preference information is uniquely important for the development of new treatments for rare diseases, as clinical trial evidence is often considerably uncertain or variable given the rare nature of the disease and the challenges affecting trial enrollment
A successful recruitment rate resulted in a total of 52 participants (33 patients and 19 caregivers) volunteering for the study, completing a total of 15 interviews and five focus group discussions (FGDs) with between five and nine participants each (Table 1)

Summary

Introduction

It has become increasingly important to include patient preference information in decision-making processes for drug development. Conclusions This qualitative study provided an open forum to elicit treatment-desired benefits and acceptable risks to be established by patients themselves. These findings can inform decisions for developing new treatments and the design of clinical trials for DM1 and MM. Patient preference information is uniquely important for the development of new treatments for rare diseases, as clinical trial evidence is often considerably uncertain or variable given the rare nature of the disease and the challenges affecting trial enrollment. The patients’ voice can complement existing trial evidence used for decision-making processes

Objectives

Results

Discussion

Conclusion