Gene therapy as a potential therapeutic option for Duchenne muscular dystrophy: A qualitative preference study of patients and parents
| Autor: | Valeria Ricotti, Carol Mansfield, Sharon E. Hesterlee, Janice P. Tzeng, Amy Strong Martin, Hannah Wand, Holly L. Peay, Ryan Fischer, Carl Morris, Katherine Beaverson, Edward C. Smith, Colin Rensch |
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| Rok vydání: | 2019 |
| Předmět: |
Male
Parents Pediatrics Heredity Muscle Physiology Muscle Functions Pulmonology Genetic Linkage Physiology Duchenne muscular dystrophy Pulmonary Function Duchenne Muscular Dystrophy Disease Muscular Dystrophies Pulmonary function testing 0302 clinical medicine Quality of life Medicine and Health Sciences 030212 general & internal medicine Child Musculoskeletal System Immune Response Multidisciplinary Muscles Patient Preference Gene Therapy Neurology X-Linked Traits Sex Linkage Disease Progression Medicine Female Anatomy medicine.symptom Research Article Adult Weakness medicine.medical_specialty Drug Research and Development Adolescent Science Immunology Context (language use) Research and Analysis Methods Young Adult 03 medical and health sciences Genetics medicine Humans Clinical Trials Molecular Biology Techniques Molecular Biology Clinical Genetics Pharmacology business.industry Biology and Life Sciences Genetic Therapy medicine.disease Health Care Muscular Dystrophy Duchenne Clinical trial Skeletal Muscles Vignette Quality of Life Clinical Medicine business 030217 neurology & neurosurgery |
| Zdroj: | PLoS ONE PLoS ONE, Vol 14, Iss 5, p e0213649 (2019) |
| ISSN: | 1932-6203 |
| DOI: | 10.1371/journal.pone.0213649 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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