Cure SMA, along with collaborators from Biogen and the SMA Foundation, have published a paper in the journal BMC Neurology.
Over the past year, we’ve completed 16 focus group sessions and 37 interviews in the US with 96 participants including: 21 with individuals with SMA; 64 parents of individuals affected by SMA; and 11 clinicians who specialize in the care of SMA patients. The goal of this project was to document the perspective of individuals and families living with SMA.
Advocacy with the FDA
An important goal at Cure SMA is to add the patient voice to the drug development process. This paper is another step in this process, building on our Voices of SMA project that was released in September. As part of the PFDD (patient-focused drug development) initiative, both the stories from Voices of SMA and the findings from the focus groups will become part of the review process if and when an SMA drug is brought forward for approval.
Three key themes emerged from the responses collected from these projects.
The first key theme was the psychosocial impact of living with SMA. The psychosocial effects of coping with SMA are substantial and wide-ranging both for the individuals living with SMA and their family. Ten areas characterized the impact: (1) confronting premature death; (2) making difficult treatment choices; (3) fearing the loss of functional ability; (4) coming to terms with lost expectations; (5) fatigue and stress; (6) stigma; (7) limitations on social activities; (8) independence; (9) uncertainty and helplessness; and (10) family finances.
A second paper from these focus groups is currently under review for journal publication. The second paper will focus on defining meaningful change in drug development, and determine critical parameters for measuring change from the patient perspective.
Published, peer-reviewed journal articles like this are one of the most important ways for researchers to share information. Published results allow the experiments and results to be reviewed and vetted by other scientists and drug companies, who may then use these as the basis for further drug development. This paper will help further incorporate the patient perspective into current and future SMA drug development research, by sharing it with the FDA and other drug companies.