DCM. This is my second blog post on SYNGAP1-related disorders within a month, which highlights how fast the area of clinical trial readiness is moving for one of the most common synapse disorders. Over the last few years, we have become more and more attuned to the fact that readying genetic epilepsies for clinical trials requires a systematic approach. The first step in this process is a disease concept model (DCM). In a recent publication in Pediatric Neurology, the authors comprehensively mapped the lived experience of SYNGAP1-related disorders. Here is what the authors found.
Tag Archives: Disease concept model
A disease concept model for STXBP1-related disorders
STX. We typically don’t blog about preprints, but we are making an exception this time given the upcoming STXBP1 Summit in Philadelphia on August 19-20. This is a post about one of our projects on STXBP1 that tries to understand the clinical presentation holistically, trying to find a way to capture the lived experience of families with STXBP1. In our current manuscript that will be presented at the STXBP1 Summit, we introduce our disease concept model for STXBP1. Disease concept models are formal frameworks that are increasingly required by regulatory agencies such as the FDA. Here is a brief overview what we find when we conduct formal interviews with families how a disease concept model helps us define phenotypes. Continue reading