Systematic Review of Patient Focused Drug Development Meeting Reports for Conditions Affecting Neurodevelopment

Background: Researchers of rare diseases affecting neurodevelopment struggle with endpoint identification and selection issues that are uniquely associated with developmental concepts but common across conditions. However, the potential to capitalize on the collective commonness of rare disease to achieve the large samples often required by psychometric methodologies is insufficiently tapped. Our goal was to identify synergies that may accelerate clinical outcome assessment development for conditions known to impact neurodevelopment. Thus, we conducted the first systematic review of patient focused drug development (PFDD) meeting reports, an important source of direct input from patients and caregivers into the drug development process. Methods: Sixteen reports on rare conditions affecting neurodevelopment were identified. The responses to two survey items, “top three most troublesome symptoms” and “top three ideal treatment targets,” were coded into general concepts and the endorsement rates were aggregated across the conditions.Results: Full consensus about any individual troublesome symptom or treatment target was rare for any condition. Three conditions had no concept that exceeded 30% endorsement. However, for 11 of the 16 conditions, at least 30% of the respondents endorsed the developmental concepts of Communication or Cognitive/Developmental as a most troublesome symptom and as an ideal treatment target. Conclusions: This empirical support for the shared prioritization of developmental concepts across heterogeneous conditions represents an important first step in unifying endpoint development efforts to promote clinical trial readiness in rare disease.