Patient Preferences in Rare Diseases: A Qualitative Study in Neuromuscular Disorders to Inform a Quantitative Preference Study
Jimenez-Moreno, A. Cecilia; van Overbeeke, Eline; Pinto, Cathy Anne; Smith, Ian; Sharpe, Jenny; Ormrod, James; Whichello, Chiara; de Bekker-Grob, Esther W.; Bullok, Kristin; Levitan, Bennett; Huys, Isabelle; de Wit, G. Ardine; Gorman, Grainne
(2021) Patient, volume 14, issue 5, pp. 601 - 612
(Article)
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
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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.
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Keywords: Caregivers, Humans, Myotonic Dystrophy, Patient Preference, Qualitative Research, Rare Diseases/drug therapy, Journal Article, Research Support, Non-U.S. Gov't
ISSN: 1178-1653
Publisher: ADIS INT LTD
Note: Funding Information: This study is part of the Patient Preferences in Benefit-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. Funding Information: This study was supported by MDUK, the MDSG and the Lily Foundation. The design and delivery of this study succeeded due to the involvement of patient representatives: RW, EJA (from Cure DM CIC), KC and JO. The authors would like to thank the team members at the Wellcome Centre for Mitochondrial Research at Newcastle University (Tracy Hermansyah, Julie Murphy, Prof Robert McFarland and Lindsey Buttwerwood), and Prof. Hanns Lochmuller from the University of Ottawa for the grant initiative leading to this case study. Funding Information: This study was supported by MDUK, the MDSG and the Lily Foundation. The design and delivery of this study succeeded due to the involvement of patient representatives: RW, EJA (from Cure DM CIC), KC and JO. The authors would like to thank the team members at the Wellcome Centre for Mitochondrial Research at Newcastle University (Tracy Hermansyah, Julie Murphy, Prof Robert McFarland and Lindsey Buttwerwood), and Prof. Hanns Lochmuller from the University of Ottawa for the grant initiative leading to this case study. Publisher Copyright: © 2021, The Author(s).
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