Abstract
BACKGROUND: Researchers of rare diseases affecting neurodevelopment struggle with concept and outcome assessment identification issues that are uniquely associated with developmental concepts but common across conditions. However, the potential to capitalize on the collective commonness of rare disease in order to achieve the large samples often required to create and validate clinical outcome assessments is insufficiently tapped. Identifying synergies in concepts of interest across conditions affecting neurodevelopment may accelerate clinical outcome assessment development for prioritized concepts. We conducted the first systematic review of patient focused drug development (PFDD) meeting reports, to identify concepts prioritized by patients and caregivers across conditions. 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 is an important first step in unifying clinical outcome assessment development efforts to promote clinical trial readiness in rare disease.