ReviewAnnals of the Child Neurology Society2024
Patient selection considerations for AADC deficiency gene therapy.
Review in Annals of the Child Neurology Society, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
5 citing papers in PubMed.
- Pharmacodynamics, Efficacy, and Safety of Intraputaminal Eladocagene Exuparvovec Administered to Pediatric Patients With Aromatic L-Amino Acid Decarboxylase Deficiency Using an MR-Compatible Cannula: 48 Weeks of Follow-Up.Journal of inherited metabolic disease · 2026Trial
- The CRISPR-Cas9 knockout DDC SH-SY5Y in vitro model for AADC deficiency provides insight into the pathogenicity of R347Q and L353P variants: a cross-sectional structural and functional analysis.The FEBS journal · 2025Article
- Estimating health state utilities for aromatic L-amino acid decarboxylase deficiency (AADCd) in the United States.Health and quality of life outcomes · 2025Article
- Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein.Journal of inherited metabolic disease · 2025Review
- The neurology of creativity: 2023 Hower lecture.Annals of the Child Neurology Society · 2024Review
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Aromatic ʟ-amino acid decarboxylase (AADC) deficiency is a rare, severe neurological disorder caused by pathogenic variants in the dopa decarboxylase ( Methods: In response to the recent approval of a disease-modifying gene therapy for AADC deficiency, this review presents considerations for the selection of patients for treatment. Conclusion: Suggested clinical criteria to determine whether a patient is a candidate for gene therapy are: (1) genetically and biochemically confirmed AADC deficiency; (2) lack of achievement of gross motor milestones and/or persistence of clinically significant movement disorders; (3) persistent neurocognitive or systemic symptoms secondary to AADC deficiency despite standard medical therapy; and (4) informed parental/guardian decision and consent to treatment.
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Registered trials
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