PRO119 Symptoms and Impacts of Nonsense Mutation Duchenne Muscular Dystrophy: A Qualitative Study and the Development of a Patient-Centred Conceptual MODEL

Williams, K.; Buesch, K.; Piglowska, N.; Davidson, Ian A.; Rance, Mark; Boehnke, A.; Acaster, Sarah

doi:10.1016/j.jval.2020.08.1855

Cited by 2 publications

(1 citation statement)

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“…However, in 1995, Wilson and Cleary modeled a conceptual framework that comprehensively surveyed the entirety of an affected individual or caregiver's lived experience with complex or rare disease, thereby centering the patients' experience within the resulting disease definition [18]. Using this model, several studies have created disease concept models (DCMs) of rare diseases, also referred to as conceptual models, conceptual disease models, and patient-centered models, to ensure patient and caregiver voices contribute to the description of the disorder [14,15,[19][20][21][22][23][24][25][26]. In addition, regulating entities have endorsed these patient-centered conceptual frameworks and increasingly encouraged drug development to involve patients and caregivers so that their perspectives are prioritized in disease treatment and understanding [27][28][29][30].…”

Section: Discussionmentioning

confidence: 99%

A disease concept model for STXBP1-related disorders

Sullivan

Ruggiero

Xian

et al. 2022

Preprint

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Objective: STXBP1-related disorders are common genetic epilepsies and neurodevelopmental disorders, but the impact of symptoms across clinical domains is poorly understood. Disease concept models are formal frameworks to assess the lived experience of individuals and their families and provide a basis for generating outcome measures. Methods: We conducted semi-structured, qualitative interviews with 19 caregivers of 16 individuals with STXBP1-related disorders and 7 healthcare professionals. We systematically coded themes using NVivo software and grouped concepts into the domains of symptoms, symptom impact and caregiver impact. We quantified the frequency of concepts throughout the life span and across clinical subgroups stratified by seizure history and developmental trajectories. Results: Over 25 hours of interviews, we coded a total of 3626 references to 38 distinct concepts. In addition to well recognized clinical features such as developmental delay (n=240 references), behavior (n=201), and seizures (n=147), we identified previously underrepresented symptoms including gastrointestinal (n=68) and respiratory symptoms (n=24) and pain (n=30). The most frequently referenced symptom impacts were autonomy (n=96), socialization (n=64), and schooling (n=61). Emotional impact (n=354), support (n=200), and daily life & activities (n=108) were highly cited caregiver impacts. We found that seizures (OR=8.84, 95% CI 5.97-13.1) were more commonly referenced in infancy than in other age groups, while behavior (OR=2.15, 95% CI 1.56-2.95), and socialization (OR=2.26, 95% CI 1.28-3.96) were more likely to be referred in childhood. We found that caregivers of individuals with ongoing seizures were less likely to reference developmental delay (OR=0.59, 95% CI 0.42-0.82), possibly due to the relatively high impact of seizures (OR=8.84, 95% CI 5.97-13.1). Significance: STXBP1-related disorders are complex conditions affecting a wide range of clinical and social domains. We comprehensively mapped symptoms and their impact on families to generate a comprehensive disease model as a foundation for clinical endpoints in future trials.

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Section: Discussionmentioning

confidence: 99%

A disease concept model for STXBP1-related disorders

Sullivan

Ruggiero

Xian

et al. 2022

Preprint

View full text Add to dashboard Cite

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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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PRO119 Symptoms and Impacts of Nonsense Mutation Duchenne Muscular Dystrophy: A Qualitative Study and the Development of a Patient-Centred Conceptual MODEL

Cited by 2 publications

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A disease concept model for STXBP1-related disorders

A disease concept model for STXBP1-related disorders

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

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