Audrey Thurm: “CTD & GAMT Outcome Measurement Tools in Pediatric Clinical Trials”
ABSTRACT
Introduction: The Association for Creatine Deficiencies received two grants from the Patient-Centered Outcomes Research Institute (PCORI). The first grant developed Core Outcome Sets (COS) for Creatine Transporter (CTD) and Guanidinoacetate methyltransferase (GAMT) deficiencies. The second grant investigated properties of measures within each COS outcome domain that were acceptable to stakeholders. To explore these measures, we completed a scoping review of outcome measures reported in clinical trials for genetic conditions associated with intellectual disability, beyond CTD and GAMT deficiency.
Methods: A specialist librarian developed a search strategy to identify pediatric trials for intellectual disability published since 2019. The MEDLINE strategy was peer reviewed prior to its translation and execution in MEDLINE, Embase, and CENTRAL. Two reviewers independently screened each retrieved citation against inclusion criteria in two stages. One reviewer extracted and a second reviewer verified each measure assessing one of our domains of interest: Cognitive Functioning, Adaptive Functioning, Expressive Communication, Fine Motor Functioning, and Emotion Dysregulation.
Results: We identified 79 eligible trials with measures assessing one or more domains of interest, with 25 trials including primary outcome measures. The most frequently reported measures were the VABS (assessing adaptive functioning, fine motor and expressive communication), the BSID (cognition) the WISC (cognition), and the ABC (emotion dysregulation). We also examined verbatim classifications of outcome measure domains and encountered variability in terminologies used.Discussion: We identified wide variability in measures and terminology, providing data for studying measurement properties and indicating the need for standardization of language regarding concepts of interest in clinical trial reporting.