How do we measure meaningful progress in individuals with Phelan-McDermid syndrome, especially when traditional developmental assessments often miss important milestones? How do we capture meaningful change in clinical trials, especially when traditional measures are not sensitive enough to things that actually matter to our families?

To help answer these questions, Dr. Lauren welcomes Dr. Natasha Ludwig from Kennedy Krieger Institute and Dr. Mary Wojnaroski from Nationwide Children’s Hospital to discuss the Inchstone Project and its latest project, Parents Speak Survey 2 (PSS2).

Learn how this innovative research is working to develop more inclusive outcome measures that capture meaningful changes in cognition, communication, behavior, and development across rare neurogenetic conditions, including Phelan-McDermid syndrome. Our guests discuss the importance of caregiver perspectives, collaboration with the FDA, and how better assessments can improve clinical trial readiness.

We also explore how families can participate in PSS2, a remote, study open to individuals ages one and older with Phelan-McDermid syndrome!

Learn more and participate: https://inchstoneproject.org/pss2/

Rss Apple Podcaster
Podden och tillhörande omslagsbild på den här sidan tillhör Phelan-McDermid Syndrome Foundation. Innehållet i podden är skapat av Phelan-McDermid Syndrome Foundation och inte av, eller tillsammans med, Poddtoppen.