Evidence map›Paper›PMID 42442016›Full record

ArticleMolecular genetics and metabolism

Neonatal gene therapy with AAV2/8-LSPhGAA improves hypertrophic cardiomyopathy in the Gaa

Shih-Hsin Kan, Jerry F Harb, Songtao Li, Agatha Kliman, Perla Andrade-Heckman, Chloe L Christensen, Sang-Oh Han, Dwight D Koeberl, Raymond Y Wang

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

9 authors.

Shih-Hsin KanRady Children's Health - Orange County, Orange, CA, USA; Department of Pediatrics, University of California-Irvine, Irvine, CA, USA.
Jerry F HarbRady Children's Health - Orange County, Orange, CA, USA; Department of Pediatrics, University of California-Irvine, Irvine, CA, USA.
Songtao LiDivision of Medical Genetics, Duke University School of Medicine, Duke University Medical Center, Durham, NC, USA.
Agatha KlimanRady Children's Health - Orange County, Orange, CA, USA.
Perla Andrade-HeckmanRady Children's Health - Orange County, Orange, CA, USA.
Chloe L ChristensenRady Children's Health - Orange County, Orange, CA, USA; Department of Pediatrics, University of California-Irvine, Irvine, CA, USA.
Sang-Oh HanDivision of Medical Genetics, Duke University School of Medicine, Duke University Medical Center, Durham, NC, USA.
Dwight D KoeberlDivision of Medical Genetics, Duke University School of Medicine, Duke University Medical Center, Durham, NC, USA; Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC, USA.
Raymond Y WangDepartment of Pediatrics, University of California-Irvine, Irvine, CA, USA; Childrens Specialists, Rady Children's Health - Orange County, Orange, CA, USA. Electronic address: RaWang@choc.org.

Funding

Stable therapy in Pompe disease through genome editingR01AR079223 · NIAMS · DUKE UNIVERSITY · PI KOEBERL, DWIGHT D · 2021 to 2025
$3.3M
NIAMS NIH HHS R01 AR079223
6 · The paper itself

Abstract

Pompe disease (PD) results from lysosomal acid α-glucosidase (GAA) deficiency, causing lysosomal glycogen accumulation in cardiac and skeletal muscles. We previously characterized a murine model carrying the orthologous human infantile-onset PD (IOPD) pathogenic variant, c.1826dupA (p.Y609*), introduced into the mouse Gaa gene. Compared to wild-type (WT; C57BL/6NJ) controls, Gaa

Indexed as

alpha-GlucosidasesCardiomyopathy, HypertrophicGenetic TherapyGlycogen Storage Disease Type IIAnimalsAnimals, NewbornDependovirusDisease Models, AnimalFemaleGene Knock-In TechniquesGene Therapy AgentsGlycogenHumansMaleMiceMice, Inbred C57BLalpha-GlucosidasesGlycogenAcid α-glucosidaseGlycogen storageHypertrophic cardiomyopathyLysosomal storage disorderPompe diseaseSkeletal muscle dysfunction

Identifiers

PMID42442016
PMCPMC13552928

What OpenQuestion holds

Textmetadata
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.