Evidence map›Paper›PMID 36580829›Full record

ArticleMolecular genetics and metabolism2023

Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine model.

Xue-Jun Zhao, Ai-Walid Mohsen, Stephanie Mihalik, Keaton Solo, Ermal Aliu, Huifang Shi, Shakuntala Basu, Catherine Kochersperger, Clinton Van't Land, Anuradha Karunanidhi and 8 more

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

Article in Molecular genetics and metabolism, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
1.9field-weighted citation impact, top 14% 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

12 citing papers in PubMed, 16 citations in OpenAlex.

  1. RNA-Based Therapies for Inherited Metabolic Disorders.Journal of inherited metabolic disease · 2026
    Review
  2. Article
  3. Article
  4. Rational design of lipid nanoparticles for enabling gene therapies.Molecular therapy. Methods & clinical development · 2025
    Review
  5. Review
  6. Review
  7. mRNA therapy as primary and bridge therapy for inborn errors of metabolism.Molecular therapy : the journal of the American Society of Gene Therapy · 2025
    Article
  8. Review
  9. HADHA Regulates Respiratory Complex Assembly and Couples FAO and OXPHOS.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024
    Article
  10. Article
  11. A review of fatty acid oxidation disorder mouse models.Molecular genetics and metabolism · 2024
    Review
  12. 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

18 authors at 2 institutions in 1 country.

Xue-Jun ZhaoDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Ai-Walid MohsenDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.
Stephanie MihalikDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Keaton SoloDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Ermal AliuDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Huifang ShiDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Shakuntala BasuDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Catherine KocherspergerDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Clinton Van't LandDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Anuradha KarunanidhiDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Kimberly A CoughlanModerna Therapeutics, Inc., Rare Diseases, 200 Technology Square, Cambridge, MA, USA.
Summar SiddiquiModerna Therapeutics, Inc., Rare Diseases, 200 Technology Square, Cambridge, MA, USA.
Lisa M RiceModerna Therapeutics, Inc., Rare Diseases, 200 Technology Square, Cambridge, MA, USA.
Shawn HillierModerna Therapeutics, Inc., Rare Diseases, 200 Technology Square, Cambridge, MA, USA.
Eleonora GuadagninModerna Therapeutics, Inc., Rare Diseases, 200 Technology Square, Cambridge, MA, USA.
Paloma H GiangrandeModerna Therapeutics, Inc., Rare Diseases, 200 Technology Square, Cambridge, MA, USA.
Paolo G V MartiniModerna Therapeutics, Inc., Rare Diseases, 200 Technology Square, Cambridge, MA, USA.
Jerry VockleyDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA. Electronic address: vockleyg@upmc.edu.
University of Pittsburgh · USModerna Therapeutics (United States) · US

Funding

Inborn Errors of Long Chain Fat MetabolismR01DK078775 · NIDDK · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI VOCKLEY, GERARD · 2008 to 2019
$4.5M
NIDDK NIH HHS R01 DK078775
6 · The paper itself

Abstract

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is an inborn error of long chain fatty acid β-oxidation (FAO) with limited treatment options. Patients present with heterogeneous clinical phenotypes affecting predominantly heart, liver, and skeletal muscle. While VLCAD deficiency is a systemic disease, restoration of liver FAO has the potential to improve symptoms more broadly due to increased total body ATP production and reduced accumulation of potentially toxic metabolites. We explored the use of synthetic human VLCAD (hVLCAD) mRNA and lipid nanoparticle encapsulated hVLCAD mRNA (LNP-VLCAD) to generate functional VLCAD enzyme in patient fibroblasts derived from VLCAD deficient patients, mouse embryonic fibroblasts, hepatocytes isolated from VLCAD knockout (Acadvl

Indexed as

Acyl-CoA Dehydrogenase, Long-ChainLipid Metabolism, Inborn ErrorsAnimalsCongenital Bone Marrow Failure SyndromesDisease Models, AnimalFibroblastsHumansMiceMitochondrial DiseasesMuscular DiseasesRNA, MessengerAcyl-CoA Dehydrogenase, Long-ChainRNA, MessengerAcadvl(-/-) mouseFatty acid β-oxidationFibroblastsSynthetic mRNAVery long-chain acyl-CoA dehydrogenase deficiency

Identifiers

PMID36580829
PMCPMC9877169
OpenAlexW4313312889

What OpenQuestion holds

Textmetadata
LicenceTDM
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.