NORD 2018

Methodology for Development of Indication-Specific Outcome Measures in Rare Disease Trials: An Innovative Research Approach

Poster download

Presented at the 2018 National Organization for Rare Disorders (NORD) Rare Summit

Authors: Pam Ventola1,2, Anna Lee3, Jeannie Visootsak3

1 Yale Child Study Center; 2 Cogstate; 3 Ovid Therapeutics

Fragile X syndrome (FXS) is a rare neurodevelopmental disorder caused by a genetic mutation and is associated with intellectual disability, anxiety disorders, behavioral and learning challenges, and various physical disabilities. As in many rare diseases, FXS is quite heterogeneous.

  • Heterogeneity in symptomology poses a significant challenge when developing a clinical outcome assessment strategy to measure treatment benefit and to support drug development.
  • In rare disease trials, including FXS, input from multiple sources (caregivers, clinicians, direct assessments) is critical to capture the range of symptoms.
  • In some indications, direct assessments with patients is not possible, so caregiver report is even more paramount.
  • A Visual Analogue Scale (VAS) is a common approach for assessing symptoms/behaviors in CNS-based clinical trials.
  • However, current outcome assessments for CNS-based trials have clear limitations which are further magnified in rare disease trials.