{
  "abstract": "The development of therapeutic clinical trials for glycogen storage disorders, including Pompe disease, has called for non-invasive and objective biomarkers. Glycogen accumulation can be measured in vivo with 13 C MRS. However, clinical implementation remains challenging due to low signal-to-noise. On the other hand, the buildup of glycolytic intermediates may be detected with 31 P MRS. We sought to identify new biomarkers of disease progression in muscle using 13 C/ 31 P MRS and 1 H HR-MAS in a mouse model of Pompe disease ( Gaa −/− ). We evaluated the sensitivity of these MR biomarkers in vivo after treatment using an adeno-associated virus vector 2/9 encoding hGAA driven by the desmin promotor. 31 P MRS showed significantly elevated phosphomonoesters (PMEs) in Gaa −/− compared to control at 2 (0.06 ± 0.02 versus 0.03 ± 0.01; p = 0.003), 6, 12, and 18 months of age. Correlative 1 H HR-MAS measures in intact gastrocnemius muscles revealed high glucose-6-phosphate (G-6-P). After intramuscular AAV injections, glycogen, PME, and G-6-P were decreased within normal range. The changes in PME levels likely partly resulted from changes in G-6-P, one of the overlapping phosphomonoesters in the 31 P MR spectra in vivo. Because 31 P MRS is inherently more sensitive than 13 C MRS, PME levels have greater potential as a clinical biomarker and should be considered as a complementary approach for future studies in Pompe patients.",
  "abstract_shown": true,
  "affiliations": [],
  "article_type": null,
  "arxiv": null,
  "author_total": 7,
  "authors": [
    {
      "name": "Celine Baligand"
    },
    {
      "name": "Adrian Todd"
    },
    {
      "name": "Brittany Lee-Mcmullen"
    },
    {
      "name": "Ravneet Vohra"
    },
    {
      "name": "Barry Byrne"
    },
    {
      "name": "Darin Falk"
    },
    {
      "name": "Glenn Walter"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/cwest116eqeyy.bib",
  "cited_by": 12,
  "doi": "10.1016/j.omtm.2017.09.002",
  "fulltext_url": null,
  "id": "cwest116eqeyy",
  "issns": [
    "2329-0501"
  ],
  "landing_url": "https://hal.science/hal-05780238v1",
  "language": "en",
  "licence": "CC-BY-NC-ND",
  "licence_label": "CC BY-NC-ND",
  "licence_source": "journal",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "hal",
      "0.sdv"
    ],
    [
      "openalex",
      "2737|Lysosomal Storage Disorders Research"
    ]
  ],
  "openalex": "W2753306148",
  "pdf_url": "https://www.cell.com/molecular-therapy-family/advances/pdf/S2329-0501(17)30099-2.pdf",
  "pmcid": null,
  "pmid": null,
  "published": "2026-10-06",
  "publisher": "Cell Press",
  "ris": "https://research.draconitic.com/paper/cwest116eqeyy.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:17:48Z",
      "native_id": "hal-05780238",
      "source": "hal",
      "url": "https://hal.science/hal-05780238v1"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2737|Lysosomal Storage Disorders Research",
      "subfield": "physiology"
    }
  ],
  "title": "13C/31P MRS Metabolic Biomarkers of Disease Progression and Response to AAV Delivery of hGAA in a Mouse Model of Pompe Disease",
  "title_text": "13C/31P MRS Metabolic Biomarkers of Disease Progression and Response to AAV Delivery of hGAA in a Mouse Model of Pompe Disease",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:17:48Z",
  "url": "https://research.draconitic.com/paper/cwest116eqeyy",
  "venue": "Molecular Therapy - Methods and Clinical Development",
  "versions": []
}