A study published in Frontiers in Psychiatry characterized the psychometric profiles of 30 individuals with Phelan-McDermid Syndrome (PMS), identifying three distinct patient subsets based on aggressiveness, cognition, and behavioral traits. This research, conducted in collaboration with the Medical and Molecular Genetics Institute (INGEMM) and the Research Institute La Paz Hospital (IdiPaz), aims to inform patient selection for future clinical trials, specifically for Oryzon Genomics’ drug vafidemstat. The study found a correlation between the size of the SHANK3 gene deletion, a hallmark of PMS, and the observed psychometric scores.
This research is crucial because it establishes a foundation for personalized medicine approaches to PMS, a rare genetic disorder with no approved treatments. By identifying distinct patient subgroups, the study provides a framework for tailoring interventions like vafidemstat, an LSD1 inhibitor, to specific patient needs. This precision approach could significantly improve treatment outcomes compared to a one-size-fits-all approach, which may be less effective or even detrimental to certain patient subgroups. This detailed characterization is particularly relevant given vafidemstat’s demonstrated efficacy in reducing agitation and aggression in other neurodevelopmental and psychiatric disorders.
The study employed various psychometric scales, including the Repetitive Behavior Questionnaire (RBQ), Vineland Adaptive Behavior Scales, ADOS-2, the Battelle developmental inventory screening test, and the Behavior Problems Inventory (BPI). Unsupervised hierarchical clustering of the resulting data revealed the three distinct patient groups, differing significantly in their cognitive abilities, aggression levels, and behavioral patterns. Importantly, the research also uncovered a correlation between the size of the SHANK3 gene deletion and these psychometric profiles, suggesting a potential link between the genetic basis of PMS and its clinical manifestations.
This research sets the stage for a more targeted and potentially effective clinical trial of vafidemstat in PMS patients. By selecting patients based on their specific psychometric profiles and genetic characteristics, researchers can better assess the drug’s efficacy and tailor treatment strategies. This precision medicine approach represents a significant advancement in the development of therapies for PMS and other rare neurodevelopmental disorders, offering hope for improved outcomes and personalized care.
Jon Napitupulu is Director of Media Relations at The Clinical Trial Vanguard. Jon, a computer data scientist, focuses on the latest clinical trial industry news and trends.
