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Eladocagene Exuparvovec for Aromatic L-Amino Acid Decarboxylase Deficiency.
JAMA
March 2025
Center for Biologics Evaluation and Research, US Food and Drug Administration, Silver Spring, Maryland.
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.
Orphanet J Rare Dis
February 2025
PTC Therapeutics, 500 Warren Corporate Center Drive, Warren, NJ, 07059, USA.
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 results demonstrate continuous long-term improvement in motor development and cognitive function. We sought to characterize clinically meaningful change in motor function, as measured by Total Peabody Developmental Motor Scales-Second Edition (PDMS-2) score, and assess correlations with cognition and language domains of the Bayley-III and motor milestone (MM) achievement.
View Article and Find Full Text PDFEstimating health state utilities for aromatic L-amino acid decarboxylase deficiency (AADCd) in the United States.
Health Qual Life Outcomes
January 2025
PTC Therapeutics Inc, 500 Warren Corporate Center Drive, Warren, N.J, 07059, USA.
Background: AADCd is a rare neurometabolic disorder presenting in infancy. Children with AADCd have motor dysfunction and development delays that result in the need for lifelong care; quality of life is greatly impacted. Current characterizations of health-related quality of life and associated health state utilities (HSUs) may be underestimated in AADCd.
View Article and Find Full Text PDFKebilidi (eladocagene exuparvovec-tneq).
Clin Ther
February 2025
Department of Public Health & Community Medicine, Tufts University School of Medicine, Boston, Massachusetts. Electronic address:
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