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
The MSD of 40 points for Total PDMS-2 score enables the interpretation of changes observed in patients with AADCd, and suggests that treatment with eladocagene exuparvovec leads to significant improvements in motor and cognitive function.
Authors
- J. Rafael Sierra (ORCID: https://orcid.org/0000-0002-8903-5845)
- Wuh‐Liang Hwu (ORCID: https://orcid.org/0000-0001-6690-4879)
- Ioannis Tomazos (ORCID: https://orcid.org/0000-0003-0290-4583)
- John Devin Peipert (ORCID: https://orcid.org/0000-0001-5762-7881)
- Thomas O’Connell (ORCID: https://orcid.org/0000-0002-4634-8649)
- Marjorie Crowell
- Christian Werner (ORCID: https://orcid.org/0000-0002-6139-7473)
- Antonia Wang
- Jonathan J. Woolley (ORCID: https://orcid.org/0000-0001-5483-9571)
- Hui-Min Lee
- Rongrong Zhang (ORCID: https://orcid.org/0000-0002-1228-9345)
Institutions
- Université Bourgogne Franche-Comté (FR)
- National Taiwan University Hospital (TW)
- PTC Therapeutics (United States) (US)
- University of Birmingham (GB)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-02-07
- DOI
- https://doi.org/10.1186/s13023-025-03584-9
- Citations
- 4
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 7.27
Funders
- PTC Therapeutics