The impact of clinical trial participation on quality of life and psychosocial well-being in children with Duchenne muscular dystrophy and their parents

Geuens, Sam; Willen, Joanna; Antonis, Corine; Stegen, Goedele; Gielis, Eva; Cuveele, Eline; Goemans, Nathalie; Lemiere, Jurgen; De Waele, Liesbeth

doi:10.1016/j.nmd.2023.10.011

Cited by 4 publications

(3 citation statements)

References 24 publications

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“…The provision of advanced therapies in healthcare systems requires support beyond medical care, with an imperative to build greater system capacity, support affected individuals and their carers through multidisciplinary team intervention, develop structured care plans and improve psychosocial support for families. 28 Comparable with previous studies, 29 50% of our carer cohort had clinically actionable symptoms of depression and anxiety, with those lacking access to treatment for their child scoring highly for signs and symptoms that characterise psychological disorder. Yet, for carers, the mainstay of psychological support was informal family and friend networks.…”

Section: Discussionsupporting

confidence: 71%

“…30 Indeed, while previous studies suggest that clinical trial participation may have positive effects on psychosocial functioning and quality of life for children and their parents, they also highlight the importance of providing and maintaining support. 29 This study is not without its limitations. Our results differ from quantitative and qualitative studies that have characterised poor supports in families affected by rare diseases.…”

Section: Discussionmentioning

confidence: 89%

Section: Discussionmentioning

confidence: 99%

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‘High hopes for treatment’: Australian stakeholder perspectives of the clinical translation of advanced neurotherapeutics for rare neurological diseases

Nguyen,

Kariyawasam,

Ngai

et al. 2024

Health Expectations

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IntroductionAdvanced therapies offer unprecedented opportunities for treating rare neurological disorders (RNDs) in children. However, health literacy, perceptions and understanding of novel therapies need elucidation across the RND community. This study explored healthcare professionals' and carers' perspectives of advanced therapies in childhood‐onset RNDs.MethodsIn this mixed‐methodology cross‐sectional study, 20 healthcare professionals (clinicians, genetic counsellors and scientists) and 20 carers completed qualitative semistructured interviews and custom‐designed surveys. Carers undertook validated psychosocial questionnaires. Thematic and quantitative data analysis followed.ResultsParticipants described high positive interest in advanced therapies, but low knowledge of, and access to, reliable information. The substantial ‘therapeutic gap’ and ‘therapeutic odyssey’ common to RNDs were recognised in five key themes: (i) unmet need and urgency for access; (ii) seeking information; (iii) access, equity and sustainability; (iv) a multidisciplinary and integrated approach to care and support and (v) difficult decision‐making. Participants were motivated to intensify RND clinical trial activity and access to advanced therapies; however, concerns around informed consent, first‐in‐human trials and clinical trial procedures were evident. There was high‐risk tolerance despite substantial uncertainties and knowledge gaps. RNDs with high mortality, increased functional burdens and no alternative therapies were consistently prioritised for the development of advanced therapies. However, little consensus existed on prioritisation to treatment access.ConclusionsThis study highlights the need to increase clinician and health system readiness for the clinical translation of advanced therapeutics for RNDs. Co‐development and use of educational and psychosocial resources to support clinical decision‐making, set therapeutic expectations and promotion of equitable, effective and safe delivery of advanced therapies are essential.Patient or Public ContributionParticipant insights into the psychosocial burden and information need to enhance the delivery of care in this formative study are informing ongoing partnerships with families, including co‐production and dissemination of psychoeducational resources featuring their voices hosted on the Sydney Children's Hospitals Network website SCHN Brain-Aid Resources.

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Section: Discussionsupporting

confidence: 71%

Section: Discussionmentioning

confidence: 89%