CO66 Improvements in the Peabody Developmental Motor Scale, Second Edition (PDMS-2) and Correlation With Bayley-III Scores and Motor Milestones in Aromatic L-Amino Acid Decarboxylase Deficiency (AADCd)

AADCd is a rare genetic disorder of monoamine neurotransmitter synthesis that typically manifests by one-year of age. Patients with AADCd have minimal functional motor movement and rarely meet developmental milestones. PDMS-2 assesses motor function in young children, and Bayley-III could identify developmental delays, including non-motor (cognitive, social/emotional) delays. Clinical trials of the gene therapy eladocagene exuparvovec (EE) assessed changes in motor function of AADCd patients using PDMS-2.

Source: Value in Health - December 1, 2023 Category: International Medicine & Public Health Authors: W.L. Hwu, H.M. Lee, J. Peipert, R. Zhang, J.R. Sierra, T. OConnell, J. Woolley, M. Crowell, A. Wang, I. Tomazos Source Type: research