Scales. Decades of cerebral palsy research suddenly become meaningful for STXBP1 and SYNGAP1. The CP field has built a mature framework of classification systems such as the Gross Motor Function Classification System (GMFCS), along with related tools for manual ability and communication. These systems were not developed for synaptic disorders, which were largely unknown when these scales were first conceptualized. However, as we move toward trial readiness, they offer exactly what we need: structured ways to describe function. The question is whether they translate and can be used. Here is what we found.
Tag Archives: Clinical Trial Readiness
Phenotypes Are Like Water – Rare Disease Day 2026
Water. Three years ago, on Rare Disease Day 2023, I published a blog post comparing phenotypes to water, existing in three phases: solid, liquid, and vapor. At the time, I was trying to make a simple point. Rare diseases are not defined by their first description, nor only by a checklist of features. They are moving targets. Here is what has changed since then.
Revisiting SYNGAP1 through a disease-concept model
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.
The future of biomarker development in rare disease
CNS Biomarkers. In the last two days, our team attended the Workshop for Multimodal Biomarkers in CNS Disorders held at the National Academies of Sciences, Engineering, and Medicine in Washington, DC. This conference provided a needed review of the current state of multimodal biomarker discovery and development. While most of the speakers focused on more common CNS disorders such as Alzheimer’s disease and neuropsychiatric disorders, there stands to be important lessons that can be translated into the rare disease field. Here is what we learned about the clinical utility of biomarkers and their potential as we move towards precision medicine in rare disease.
Phenotypes are like water – Rare Disease Day 2023
Phases. Today is Rare Disease Day. I would like to use this opportunity to explain some of the phenotype science that is critical for rare diseases. In contrast to common disorders, rare diseases face an unusual challenge. Once identified, the overall rareness of these condition poses the question of where phenotypes begin and where they end. For rare genetic disorders, is the phenotype of the first individual identified with a rare disease characteristic, or is there a larger spectrum that we should be aware of? Enter the various approaches to phenotype science that aim to decipher the full depth of clinical features associated with rare diseases. In order to understand the various approaches to rare diseases phenotypes, I would like to suggest a somewhat unusual analogy: phenotypes are like water.