Duchenne Muscular Dystrophy (DMD) is a common X-linked disease in which boys and young men experience progressive skeletal and cardiac muscle deterioration, with loss of ambulation (second decade) and death from cardiomyopathy and respiratory failure (third decade). Animal studies have demonstrated correction of the dystrophy in muscle using gene transfer technology with a viral vector. This technique is now being explored as a means of gene transfer in children with DMD and may substantially increase muscle function and prolong life. However, there are complex ethical issues related to the balance of risk to benefit with the different approaches to gene transfer interventions. This study will explore the views of the DMD community on the risks and benefits of different approaches to gene transfer interventions so that their perspective may be included in ongoing discussions of these ethical issues. The primary goal of this project is to elicit the perspectives of the DMD community (i.e., adolescents with the disease, and their parents) so that this information may be used in designing gene transfer trials for DMD.
The specific aims of the study are: (1) To elicit the perspectives of the DMD community on regional versus systemic approaches to gene transfer interventions; (2) To explore whether a commitment to the welfare of the DMD community (i.e., collectivism) influences a hypothetical decision to participate in a study that poses risk and may offer more limited benefit to oneself; and (3) To explore other factors that may influence attitudes towards research participation, such as disease progression, confidence in medical services, level of technological dependency, and individual characteristics such as the mutational cause of the DMD.
These aims will be achieved through the use of focus groups with adolescents with DMD, and their parents, followed by individual semi-structured interviews. The proposed research responds directly to two research objectives found in the NIH Action Plan for the Muscular Dystrophies (Dec 2005). The objectives are: (1) evaluate the clinical endpoints needed for and ethical issues associated with gene transfer interventions; and (2) determine the magnitude of changes in endpoints which are clinically meaningful to patients and family members.
A recent report by the NIH Council of Public Representatives recommends that researchers incorporate the """"""""public's perspective [in] the conduct of clinical research and the publication of findings from that research.""""""""[8] This study responds to that goal by giving members of the DMD community an opportunity to provide input on the design of gene transfer research intended to benefit those suffering from this devastating disease. The study will provide information to the DMD community about proposed research, gather adolescent and parent views about the risks and benefits of different approaches to gene transfer interventions, and feed this information back to researchers to help them design ethically sound studies that are responsive to community needs. ? ? ? ?
| Finkel, Richard S; McDermott, Michael P; Kaufmann, Petra et al. (2014) Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology 83:810-7 |
