ArticlePloS one2019
Gene therapy as a potential therapeutic option for Duchenne muscular dystrophy: A qualitative preference study of patients and parents.
Article in PloS one, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- Preferences for Advanced Therapy Medicinal Products: Understanding the Published Literature on the Value of Innovative Health Interventions.Inquiry : a journal of medical care organization, provision and financingPooled it
- Evaluation of protein expression and oxidative stress index in Duchenne muscular dystrophy.Pediatric research · 2026Article
- The Paradox of Life Extension with Traditional Cost-Effectiveness Analysis: A Case Study with Duchenne Muscular Dystrophy.Journal of health economics and outcomes research · 2026Article
- Knowledge, attitudes, and perspectives on gene therapy for Fragile X syndrome: results from two community and caregiver surveys.Frontiers in molecular neuroscience · 2026Article
- Disability, Genetic Counseling, and Medical Education: From Eugenics to Anti-Ableism.Annual review of genomics and human genetics · 2025Review
- A patient-centered qualitative evaluation of meaningful change on the NSAA and PUL in Duchenne Muscular Dystrophy.Frontiers in neurology · 2025Article
- Preferences for gene therapy in Duchenne muscular dystrophy: insights from patient and caregiver interviews and attribute development.Frontiers in pharmacology · 2025Article
- General Practitioners perspectives on infant telomere length screening after a pregnancy complication: a qualitative analysis.Family practice · 2024Article
- Patient Perceptions of Emerging Gene Therapies for Arrhythmogenic Right Ventricular Cardiomyopathy.Circulation. Genomic and precision medicine · 2024Article
- Preferences for genetic interventions for SCA and Huntington's disease: results of a discrete choice experiment among patients.Orphanet journal of rare diseases · 2024Article
- Different diseases, different needs: Patient preferences for gene therapy in lysosomal storage disorders, a probabilistic threshold technique survey.Orphanet journal of rare diseases · 2024Article
- Comparing Preferences for Disease Profiles: A Discrete Choice Experiment from a US Societal Perspective.Applied health economics and health policy · 2024Article
- Perspectives of the Friedreich ataxia community on gene therapy clinical trials.Molecular therapy. Methods & clinical development · 2024Article
- Healthcare Stakeholder Perspectives on a Value Assessment Approach for Duchenne Muscular Dystrophy Therapies.Journal of multidisciplinary healthcare · 2024Article
- Engaging children and adolescents in the design and conduct of paediatric research.Frontiers in pediatrics · 2024Article
- Eliciting Exploratory Patient Preference Data: A Case Study in a Rare Disease.Pharmaceutical medicine · 2024Article
- Genetic Interventions for Spinocerebellar Ataxia and Huntington's Disease: A Qualitative Study of the Patient Perspective.Journal of Huntington's disease · 2024Article
- Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies - Developing Potential Treatments for the Entire Spectrum of Disease.Journal of neuromuscular diseases · 2024Article
- A qualitative study to understand the Duchenne muscular dystrophy experience from the parent/patient perspective.Journal of patient-reported outcomes · 2023Article
- Public Attitudes About the Use of Gene Therapy in Mainland China.JAMA network open · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesDuchenne muscular dystrophy (DMD) is a rare neuromuscular disorder that causes progressive weakness and early death. Gene therapy is an area of new therapeutic development. This qualitative study explored factors influencing parents' and adult patients' preferences about gene therapy.
methodsWe report qualitative data from 17 parents of children with DMD and 6 adult patients. Participants responded to a hypothetical gene therapy vignette with features including non-curative stabilizing benefits to muscle, cardiac and pulmonary function; a treatment-related risk of death; and one-time dosing with time-limited benefit of 8-10 years. We used NVivo 11 to code responses and conduct thematic analyses.
resultsAll participants placed high value on benefits to skeletal muscle, cardiac, and pulmonary functioning, with the relative importance of cardiac and pulmonary function increasing with disease progression. More than half tolerated a hypothetical 1% risk of death when balanced against Duchenne progression and limited treatment options. Risk tolerance increased at later stages. Participants perceived a 'right time' to initiate gene therapy. Most preferred to wait until a highly-valued function was about to be lost.
conclusionParticipants demonstrated a complex weighing of potential benefits against harms and the inevitable decline of untreated Duchenne. Disease progression increased risk tolerance as participants perceived fewer treatment options and placed greater value on maintaining remaining function. In the context of a one-time treatment like gene therapy, our finding that preferences about timing of initiation are influenced by disease state suggest the importance of assessing 'lifetime' preferences across the full spectrum of disease progression.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.