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

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

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

9 Citations (Scopus)
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Abstract

Introduction: It 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. Methods: Fifteen 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. Results: A 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. 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.

Original languageEnglish
Pages (from-to)601-612
Number of pages12
JournalPatient
Volume14
Issue number5
DOIs
Publication statusPublished - 27 Feb 2021

Bibliographical note

Funding This study is part of the Patient Preferences in Beneft-Risk
Assessments during the Drug Life Cycle (IMI-PREFER) project. The
PREFER project has received funding from the Innovative Medicines
Initiative 2 Joint Undertaking under grant agreement no. 115966. This
Joint Undertaking receives support from the European Union’s Horizon 2020 research and innovation programme and the European Federation
of Pharmaceutical Industries and Associations (EFPIA). Dr. Gorman’s
work is supported by the Wellcome Trust Award (203105/Z/16/Z).
Additionally, the delivery of MM Focus Groups was supported by the
Wellcome Engagement Enrichment award 203105/Z/16/B.
© 2021. The Author(s).

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