Evidence map›Paper›PMID 37746248›Full record

ArticleMolecular therapy. Methods & clinical development2023

Systemic gene therapy using an AAV44.9 vector rescues a neonatal lethal mouse model of propionic acidemia.

Randy J Chandler, Giovanni Di Pasquale, Eun-Young Choi, David Chang, Stephanie N Smith, Jennifer L Sloan, Victoria Hoffmann, Lina Li, John A Chiorini, Charles P Venditti

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular therapy. Methods & clinical development, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
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

6 citing papers in PubMed.

  1. Immune Dysregulation in Branched Chain Organic Acidemias.Journal of inherited metabolic disease · 2026
    Review
  2. Propionic acidemia in Mexico: Clinical and genotypic spectrum.Molecular genetics and metabolism reports · 2026
    Article
  3. Review
  4. Article
  5. Article
  6. Hyperammonemia and inborn errors of metabolism.Translational pediatrics · 2024
    Article
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

10 authors.

Randy J ChandlerNational Human Genome Research Institute, Bethesda, MD 20892, USA.
Giovanni Di PasqualeNational Institute of Dental and Craniofacial Research, Bethesda, MD 20892, USA.
Eun-Young ChoiNational Human Genome Research Institute, Bethesda, MD 20892, USA.
David ChangNational Human Genome Research Institute, Bethesda, MD 20892, USA.
Stephanie N SmithNational Human Genome Research Institute, Bethesda, MD 20892, USA.
Jennifer L SloanNational Human Genome Research Institute, Bethesda, MD 20892, USA.
Victoria HoffmannOffice of Research Services, National Institutes of Health, Bethesda, MD 20892, USA.
Lina LiNational Human Genome Research Institute, Bethesda, MD 20892, USA.
John A ChioriniNational Institute of Dental and Craniofacial Research, Bethesda, MD 20892, USA.
Charles P VendittiNational Human Genome Research Institute, Bethesda, MD 20892, USA.

Funding

Investigations of Methylmalonic Acidemia and Related DisordersZIAHG200318 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI VENDITTI, CHARLES P · 2009 to 2025
$29.7M
Adeno-associated Virus Biology And Utilization For Gene TransferZ01DE000695 · NIDCR · NATIONAL INSTITUTE OF DENTAL & CRANIOFACIAL RESEARCH · PI CHIORINI, JOHN A · 2000 to 2008
$3.4M
Intramural NIH HHS Z01 DE000695Intramural NIH HHS ZIA HG200318
6 · The paper itself

Abstract

Propionic acidemia (PA) is rare autosomal recessive metabolic disorder caused by defects in the mitochondrially localized enzyme propionyl-coenzyme A (CoA) carboxylase. Patients with PA can suffer from lethal metabolic decompensation and cardiomyopathy despite current medical management, which has led to the pursuit of gene therapy as a new treatment option for patients. Here we assess the therapeutic efficacy of a recently described adeno-associated virus (AAV) capsid, AAV44.9, to deliver a therapeutic

Indexed as

AAV44.9cardiac tropismgenome editingmouse modelneonatal gene therapyorganic acidemiaPCCApropionic acidemiapropionylcoa carboxylase deficiencysystemic gene therapy

Identifiers

PMID37746248
PMCPMC10512014

What OpenQuestion holds

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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.