Clinically meaningful improvements after gene therapy for aromatic L-amino acid decarboxylase deficiency (AADCd) in the Peabody Developmental Motor Scale, Second Edition (PDMS-2) and correlation with Bayley-III scores and motor milestones

Clinically meaningful improvements after gene therapy for aromatic L-amino acid decarboxylase deficiency (AADCd) in the Peabody Developmental Motor Scale, Second Edition (PDMS-2) and correlation with Bayley-III scores and motor milestones

Abstract Background Aromatic L-amino acid decarboxylase deficiency (AADCd) is a rare genetic disorder characterized by movement disorders, motor and autonomic dysfunction, and developmental delays. The gene therapy eladocagene exuparvovec has become available in some regions; pooled clinical trial r...

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Main Authors: Wuh-Liang Hwu, Hui-Min Lee, John Devin Peipert, Rongrong Zhang, Christian Werner, J. Rafael Sierra, Thomas O’Connell, Jonathan J. Woolley, Marjorie Crowell, Antonia Wang, Ioannis Tomazos
Format: Article
Language:English
Published: BMC 2025-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Aromatic L-amino acid decarboxylase deficiency
Motor function
Cognitive function
Gene therapy
Online Access:https://doi.org/10.1186/s13023-025-03584-9
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https://doi.org/10.1186/s13023-025-03584-9

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