Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study.

ABSTRACT:

Introduction

This pilot study assessed instruments measuring relatively discrete neuropsychological domains to inform the selection of clinical outcome assessments that may be considered for interventional trials in methylmalonic acidemia (MMA) and propionic acidemia (PA).

Methods

Tests and questionnaires were selected for their possible relevance to MMA and PA and potential sensitivity to modest changes in functioning and behavior.

Results

Twenty-one patients (<18 years, n = 10;>18 years, n = 11) and/or their caregivers responded to video interviews and paper tests. Language deficits and significant motor deficits in some participants impacted scoring, especially in the verbal and processing speed sections of the Wechsler Intelligence Scale for Children

SUBMITTER: Chapman KA 

PROVIDER: S-EPMC9842695 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature