Exploring Quality of Life in Duchenne Muscular Dystrophy: Insights From Qualitative Patient and Caregiver Interviews
Author(s)
Mindy Leffler, M.Ed1, Marielle G. Contesse, PhD2, Eugenio Mercuri, MD, PhD3, Francina Munell, MD, PhD4, Mercedes Lopez, PhD5, Valerie Deroo, BSE6, Sara Cazzaniga, BSc7, Nicoletta Coceani, BSc8, Samantha Parker, MBA9.
1RedNucleus, Yardly, PA, USA, 2Red Nucleus, Yardley, PA, USA, 3Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy, 4Vall d’Hebron Institut de Recerca, Barcelona, Spain, 5Hospital Universitario Virgen del Rocío, Sevilla, Spain, 6Italfarmaco SpA, Cinisello, Italy, 7Italfarmaco SpA, Milan, Italy, 8Italfamaco SpA, Cinisello Balsamo (MI), Italy, 9Lead Patient Advocacy, Italfarmaco, Meudon, France.
1RedNucleus, Yardly, PA, USA, 2Red Nucleus, Yardley, PA, USA, 3Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy, 4Vall d’Hebron Institut de Recerca, Barcelona, Spain, 5Hospital Universitario Virgen del Rocío, Sevilla, Spain, 6Italfarmaco SpA, Cinisello, Italy, 7Italfarmaco SpA, Milan, Italy, 8Italfamaco SpA, Cinisello Balsamo (MI), Italy, 9Lead Patient Advocacy, Italfarmaco, Meudon, France.
OBJECTIVES: The purpose of this interview study is to explore how the maintenance of independence affects quality of life in patients with Duchenne muscular dystrophy (DMD) who are ‘untreated’, and who receive investigational givinostat and to examine the impact of functional milestone loss on both patients and caregivers.
METHODS: This study employs semi-structured interviews intended to characterize the lived experiences of individuals with DMD and/or their caregivers, with a focus on functional abilities and independence in daily life. Each interview lasts approximately 60 minutes. The study does not involve any treatment or intervention. However, some participants will have received givinostat for at least two years. The target sample size is 68 participants (30 patients diagnosed with DMD and 38 caregivers). Data analysis employs a grounded theory approach to identify key domains related to functioning and autonomy across the patient and caregiver experience.
RESULTS: Preliminary results will explore emerging themes related to daily functional abilities, barriers to independence, and the perceived impact of givinostat treatment. Initial interview results suggest even small, incremental declines in functional capacity can significantly affect independence in activities of daily living (n=30). Additional interviews and analyses are warranted to draw further conclusions.
CONCLUSIONS: This study aims to generate comprehensive qualitative insights into the daily lived experience of individuals with DMD treated with givinostat and their caregivers. The findings are expected to contribute to the design of future trials and support regulatory and reimbursement decision-making by capturing patient- and caregiver-prioritised aspects of functioning and independence. This work also highlights the challenges of measuring quality of life in a progressive disease such as DMD, where continued decline may occur despite therapeutic benefit. In conjunction, validated PRO instruments may not adequately capture meaningful changes.
METHODS: This study employs semi-structured interviews intended to characterize the lived experiences of individuals with DMD and/or their caregivers, with a focus on functional abilities and independence in daily life. Each interview lasts approximately 60 minutes. The study does not involve any treatment or intervention. However, some participants will have received givinostat for at least two years. The target sample size is 68 participants (30 patients diagnosed with DMD and 38 caregivers). Data analysis employs a grounded theory approach to identify key domains related to functioning and autonomy across the patient and caregiver experience.
RESULTS: Preliminary results will explore emerging themes related to daily functional abilities, barriers to independence, and the perceived impact of givinostat treatment. Initial interview results suggest even small, incremental declines in functional capacity can significantly affect independence in activities of daily living (n=30). Additional interviews and analyses are warranted to draw further conclusions.
CONCLUSIONS: This study aims to generate comprehensive qualitative insights into the daily lived experience of individuals with DMD treated with givinostat and their caregivers. The findings are expected to contribute to the design of future trials and support regulatory and reimbursement decision-making by capturing patient- and caregiver-prioritised aspects of functioning and independence. This work also highlights the challenges of measuring quality of life in a progressive disease such as DMD, where continued decline may occur despite therapeutic benefit. In conjunction, validated PRO instruments may not adequately capture meaningful changes.
Conference/Value in Health Info
2025-11, ISPOR Europe 2025, Glasgow, Scotland
Value in Health, Volume 28, Issue S2
Code
PCR93
Topic
Clinical Outcomes, Health Technology Assessment, Patient-Centered Research
Topic Subcategory
Patient-reported Outcomes & Quality of Life Outcomes
Disease
Pediatrics, Rare & Orphan Diseases