A comprehensive qualitative framework for health-related quality of life in Duchenne muscular dystrophy

Powell, Philip A.; Carlton, Jill

doi:10.1007/s11136-022-03240-w

Cited by 7 publications

(1 citation statement)

References 44 publications

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“…Considerations of the lived experience of individuals with Duchenne could help produce accurate information on QALYs gained due to DMD therapies, leading to more precise assessments of value. These considerations are reflected in a recently developed 30-item, 6-category (autonomy, daily activities, feelings and emotions, identity, physical aspects, social relationships) framework that captures quality of life in DMD from the perspective of boys and men with the disease [25].…”

Section: Discussionmentioning

confidence: 99%

Healthcare Stakeholder Perspectives on a Value Assessment Approach for Duchenne Muscular Dystrophy Therapies

Fischer,

Furlong,

Kennedy

et al. 2023

Preprint

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BACKGROUND: Traditional value assessment frameworks are challenged in comprehensively assessing the societal value new therapies bring to individuals with rare, progressive, genetic, fatal, neuromuscular diseases such as Duchenne muscular dystrophy (DMD). OBJECTIVE: To identify how value assessment frameworks may need to be adapted to measure the value to society of DMD therapies. METHODS: Three groups of stakeholders (patient advocates, clinicians, health economists) participated in semi-structured interviews around the International Society for Pharmacoeconomics and Outcomes Researchs Value Flower, which includes elements of value that can be considered within value assessments of healthcare technologies. RESULTS: All stakeholders agreed that traditional value assessment frameworks based on the quality-adjusted life year (QALY) are narrow and will undervalue new DMD therapies. All stakeholders expressed some level of concern that use of the QALY as a key metric of value discriminates against patients with severe progressive diseases and disabilities. Some stakeholders saw value in using the QALY for cross-disease comparisons in resource-constrained environments if the methodology was appropriate. All stakeholders recommended considering additional elements of value in decision-making around new DMD therapies. These elements reflect: the economic and humanistic costs incurred by patients, caregivers, and families with Duchenne, such as indirect out-of-pocket costs, lost productivity, and family spillovers; the attributes that are meaningful for individuals with disabilities and high unmet need, such as severity of disease, value of hope, and real option value; and factors that contribute to improvements in population health, such as insurance value, equity, and scientific spillovers. CONCLUSIONS: These findings highlight the need to expand traditional value assessment frameworks and take a holistic approach that incorporates the perspectives of individuals with Duchenne, caregivers, clinicians, and heath economists when assessing the societal value of new DMD therapies. Broadening value assessment will prevent restricted or delayed access to therapies for individuals with Duchenne.

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Section: Discussionmentioning

confidence: 99%

Healthcare Stakeholder Perspectives on a Value Assessment Approach for Duchenne Muscular Dystrophy Therapies

Fischer,

Furlong,

Kennedy

et al. 2023

Preprint

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Eteplirsen Treatment for Duchenne Muscular Dystrophy: A Qualitative Patient Experience Study

Iff,

Carmichael,

McKee

et al. 2024

Adv Ther

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Introduction Duchenne muscular dystrophy (DMD) is characterized by rapid functional decline. Current available treatment options aim to delay disease progression or stabilize physical function. To aid in healthcare providers’ understanding of the symptoms of disease that impact patients’ experience, this study explored children’s physical functioning, activities of daily living (ADLs), and health-related quality of life (HRQoL) after receiving eteplirsen, a weekly infusion indicated for individuals with DMD with exon 51 skip-amenable mutations. Methods Fifteen caregivers of male individuals with DMD participated in a 60-min, semi-structured interview. Open-ended questioning explored changes in the children’s condition or maintenance in abilities since eteplirsen initiation. Results Children with DMD (age 7–15 years [mean 10.9]; steroid treatment at interview, n = 8; time since eteplirsen initiation 3–24 months [mean 14.9]) were described by caregivers as ambulatory ( n = 9) and non-ambulatory ( n = 6). Caregivers of ambulatory children reported improvements or maintenance of walking ability ( n = 7/9), running ( n = 6/9), and using stairs ( n = 4/9). Continued decline in using stairs was reported by two caregivers. In upper-limb functioning, improvements or maintenances in fine-motor movements were reported by nearly half of all caregivers ( n = 7/15), with one caregiver noting a continued decline. Subsequent improvements or maintenances in ADLs were described. Improvements or maintenances in fatigue ( n = 9/15), muscle weakness ( n = 7/15), and pain ( n = 6/15) were reported, although some caregivers described a continued decline ( n = 3/15 fatigue, n = 1/15 muscle weakness, n = 2/15 pain). Importantly, most caregivers who reported maintenances in ability perceived this as a positive outcome ( n = 6/9). Conclusion This exploratory study indicated that most caregivers perceived improvements or maintenances in aspects of their child’s physical functioning, ADLs, and HRQoL since eteplirsen initiation, which they perceived to be a positive outcome. Supplementary Information The online version contains supplementary material available at 10.1007/s12325-024-02915-9.

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“I don't know whether I will be alive or not” - An interpretative phenomenological analysis of young adult males with Duchenne Muscular Dystrophy making sense of self and life

Ee,

Chong,

Poh

et al. 2024

Disability and Health Journal

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A comprehensive qualitative framework for health-related quality of life in Duchenne muscular dystrophy

Cited by 7 publications

References 44 publications

Healthcare Stakeholder Perspectives on a Value Assessment Approach for Duchenne Muscular Dystrophy Therapies

Healthcare Stakeholder Perspectives on a Value Assessment Approach for Duchenne Muscular Dystrophy Therapies

Eteplirsen Treatment for Duchenne Muscular Dystrophy: A Qualitative Patient Experience Study

“I don't know whether I will be alive or not” - An interpretative phenomenological analysis of young adult males with Duchenne Muscular Dystrophy making sense of self and life

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