Evidence map›Paper›PMID 40268518›Full record

ArticleClinical and translational medicine2025

Skeletal muscle effects of antisense oligonucleotides targeting glycogen synthase 1 in a mouse model of Pompe disease.

Lan Weiss, Michele Carrer, Alyaa Shmara, Angela Martin, Hong Yin, Pallabi Pal, Cheng Cheng, Lac Ta, Victoria Boock, Yasamin Fazeli and 9 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical and translational medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

19 authors.

Lan WeissDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, California, USA.ORCID 0000-0003-4130-8725
Michele CarrerIonis Pharmaceuticals, Inc., Carlsbad, California, USA.ORCID 0000-0002-6464-9584
Alyaa ShmaraDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, California, USA.
Angela MartinDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, California, USA.ORCID 0000-0002-3564-5453
Hong YinDepartment of Neurology, University of California, Irvine, California, USA.
Pallabi PalDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, California, USA.
Cheng ChengDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, California, USA.
Lac TaDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, California, USA.
Victoria BoockDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, California, USA.
Yasamin FazeliDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, California, USA.
Mindy ChangDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, California, USA.
Marvin PaguioDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, California, USA.
Jonathan LeeDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, California, USA.
Howard YuDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, California, USA.
John WeissDepartment of Neurology, University of California, Irvine, California, USA.
Tamar R GrossmanIonis Pharmaceuticals, Inc., Carlsbad, California, USA.
Nina RabenCell and Developmental Biology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA.
Paymaan Jafar-NejadIonis Pharmaceuticals, Inc., Carlsbad, California, USA.
Virginia KimonisDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, California, USA.ORCID 0000-0003-1567-4449

Funding

Antisense oligonucleotide treatment for Pompe diseaseR21AR080972 · NIAMS · UNIVERSITY OF CALIFORNIA-IRVINE · PI KIMONIS, VIRGINIA EUNICE · 2022 to 2023
$380k
FDA HHS R01 FD007478National Institutes of Health/National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIH/NIAMS) R21AR080972-01NIAMS NIH HHS R21 AR080972The Council on Research, Computing, and Libraries (CORCL) at the University of California, IrvineThe Helen Walker Award, Acid Maltase Deficiency Association (AMDA)
6 · The paper itself

Abstract

Pompe disease (PD) is a progressive myopathy caused by the aberrant accumulation of glycogen in skeletal and cardiac muscle resulting from the deficiency of the enzyme acid alpha-glucosidase (GAA). Administration of recombinant human GAA as enzyme replacement therapy (ERT) works well in alleviating the cardiac manifestations of PD but loses sustained benefit in ameliorating the skeletal muscle pathology. The limited efficacy of ERT in skeletal muscle is partially attributable to its inability to curb the accumulation of new glycogen produced by the muscle enzyme glycogen synthase 1 (GYS1). Substrate reduction therapies aimed at knocking down GYS1 expression represent a promising avenue to improve Pompe myopathy. However, finding specific inhibitors for GYS1 is challenging given the presence of the highly homologous GYS2 in the liver. Antisense oligonucleotides (ASOs) are chemically modified oligomers that hybridise to their complementary target RNA to induce their degradation with exquisite specificity. In the present study, we show that ASO-mediated Gys1 knockdown in the Gaa

Indexed as

Glycogen Storage Disease Type IIGlycogen SynthaseMuscle, SkeletalOligonucleotides, Antisensealpha-GlucosidasesAnimalsDisease Models, AnimalGlycogenHumansMiceMice, Knockoutalpha-GlucosidasesGlycogenGlycogen SynthaseOligonucleotides, Antisenseantisense oligonucleotides (ASOs)Enzyme replacement therapy (ERT)Gaa‐/‐ mouse modelglycogen synthase 1 (GYS1)Pompe diseaseskeletal muscle

Identifiers

PMID40268518
PMCPMC12017901

What OpenQuestion holds

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Registered trials

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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.