Evidence map›Paper›PMID 34763085›Full record

ArticleMolecular therapy : the journal of the American Society of Gene Therapy2022

Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency.

Chun-Hwei Tai, Ni-Chung Lee, Yin-Hsiu Chien, Barry J Byrne, Shin-Ichi Muramatsu, Sheng-Hong Tseng, Wuh-Liang Hwu

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
81citing papers in PubMed, 3 pooled it
17.7field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

81 citing papers in PubMed, 3 syntheses or guidelines pooled it, 151 citations in OpenAlex.

  1. Pooled it
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  7. Article
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  10. Consequences of human genetic variations inMolecular therapy. Advances · 2026
    Article
  11. Article
  12. Review
  13. Review
  14. Extracellular vesicles-associated AAVs for the treatment of Machado-Joseph disease.Molecular therapy : the journal of the American Society of Gene Therapy · 2026
    Article
  15. Genetic therapies for neurological diseases.Pharmacological reviews · 2026
    Review
  16. Article
  17. Review
  18. Review
  19. Article
  20. Article

21 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 3 institutions in 3 countries.

Chun-Hwei TaiDepartment of Neurology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
Ni-Chung LeeDepartment of Medical Genetics and Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
Yin-Hsiu ChienDepartment of Medical Genetics and Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
Barry J ByrnePowell Gene Therapy Center and Departments of Molecular Genetics and Microbiology and Pediatrics, University of Florida, Gainesville, FL, USA.
Shin-Ichi MuramatsuDivision of Neurological Gene Therapy, Center for Innovation, Jichi Medical University, Shimotsuke, Japan; Center for Gene & Cell Therapy, The Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
Sheng-Hong TsengDepartment of Surgery, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
Wuh-Liang HwuDepartment of Medical Genetics and Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan. Electronic address: hwuwlntu@ntu.edu.tw.
National Taiwan University Hospital · TWJichi Medical University · JPUniversity of Florida · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Aromatic L-amino acid decarboxylase deficiency results in decreased neurotransmitter levels and severe motor dysfunction. Twenty-six patients without head control received bilateral intraputaminal infusions of a recombinant adeno-associated virus type 2 vector containing the human aromatic L-amino acid decarboxylase gene (eladocagene exuparvovec) and have completed 1-year evaluations. Rapid improvements in motor and cognitive function occurred within 12 months after gene therapy and were sustained during follow-up for >5 years. An increase in dopamine production was demonstrated by positron emission tomography and neurotransmitter analysis. Patient symptoms (mood, sweating, temperature, and oculogyric crises), patient growth, and patient caretaker quality of life improved. Although improvements were observed in all treated participants, younger age was associated with greater improvement. There were no treatment-associated brain injuries, and most adverse events were related to underlying disease. Post-surgery complications such as cerebrospinal fluid leakage were managed with standard of care. Most patients experienced mild to moderate dyskinesia that resolved in a few months. These observations suggest that eladocagene exuparvovec treatment for aromatic L-amino acid decarboxylase deficiency provides durable and meaningful benefits with a favorable safety profile.

Indexed as

Amino Acid Metabolism, Inborn ErrorsQuality of LifeAromatic-L-Amino-Acid DecarboxylasesDopamineGenetic TherapyHumansAromatic-L-Amino-Acid DecarboxylasesDopamineadeno-associated virusaromatic L-amino acid decarboxylase deficiencyeladocagene exuparvovecgene therapyputamen

Identifiers

PMID34763085
PMCPMC8822132
OpenAlexW3214359432

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.