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    GENE:

    PMM2 (Phosphomannomutase 2)

    i
    Other names: PMM2, Phosphomannomutase 2, CDG1a, CDGS, PMI1, PMI, Mannose-6-Phosphate Isomerase, Phosphomannose Isomerase 1, PMM 2, CDG1, Congenital Disorder Of Glycosylation, Type Ia
    Associations

    News

    Trials
    12d
    A Study to Assess the Efficacy and Safety of Weekly Doses of GLM101 in Participants With PMM2-CDG (clinicaltrials.gov)
    P2/3, N=50, Active, not recruiting, Glycomine, Inc. | Recruiting --> Active, not recruiting
    Enrollment closed
    |
    PMM2 (Phosphomannomutase 2)
    2ms
    24-Week Study to Assess the PD, Safety, Tolerability, and PK of GLM101 in Participants With PMM2-CDG (clinicaltrials.gov)
    P2, N=27, Completed, Glycomine, Inc. | Active, not recruiting --> Completed | N=44 --> 27
    Trial completion • Enrollment change
    |
    PMM2 (Phosphomannomutase 2)
    3ms
    Natural History Study Protocol in PMM2-CDG (CDG-Ia) (clinicaltrials.gov)
    P=N/A, N=120, Active, not recruiting, Glycomine, Inc. | Trial completion date: Dec 2025 --> Mar 2026 | Trial primary completion date: Sep 2025 --> Mar 2026
    Trial completion date • Trial primary completion date
    |
    PMM2 (Phosphomannomutase 2)
    5ms
    Immunopathology in PMM2-CDG: Defective glycosylation impact in the TNFα -TNFR1 signalling pathway. (PubMed, Front Immunol)
    Importantly, our study identifies TNFR1 as a promising therapeutic target, suggesting that strategies aimed at modulating TNFR1 activity or restoring glycosylation homeostasis could provide new approaches for treatment development. This work advances our understanding of PMM2 -CDG immunopathology and opens opportunities for targeted therapeutics.
    Journal
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    IL6 (Interleukin 6) • TNFA (Tumor Necrosis Factor-Alpha) • TNFRSF1A (TNF Receptor Superfamily Member 1A) • PMM2 (Phosphomannomutase 2)
    9ms
    24-Week Study to Assess the PD, Safety, Tolerability, and PK of GLM101 in Participants With PMM2-CDG (clinicaltrials.gov)
    P2, N=44, Active, not recruiting, Glycomine, Inc. | Recruiting --> Active, not recruiting
    Enrollment closed
    |
    PMM2 (Phosphomannomutase 2)
    1year
    Mendelian randomization analysis of plasma proteins reveals potential novel tumor markers for gastric cancer. (PubMed, Sci Rep)
    Pathway enrichment analysis of gene expression associated with these 14 plasma proteins, using GO and KEGG pathways, revealed that CHST15, L1CAM, FTMT, and PMM2 may serve as protective factors against gastric cancer, while ABO, FAM3D, FAM3B, ADH7, MAP1LC3A, PGLYRP1, PDE5A, GLUL, NFE2L1, and MAFG may contribute to gastric cancer pathogenesis. These results highlight the complex biological interactions between plasma proteins and tumorigenesis, providing valuable insights for preventive and therapeutic strategies in gastric malignancy management.
    Journal
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    L1CAM (L1 cell adhesion molecule) • PDE5A (Phosphodiesterase 5A) • MAP1LC3A (Microtubule Associated Protein 1 Light Chain 3 Alpha) • PMM2 (Phosphomannomutase 2)
    over1year
    24-Week Study to Assess the PD, Safety, Tolerability, and PK of GLM101 in Participants with PMM2-CDG (clinicaltrials.gov)
    P2, N=44, Recruiting, Glycomine, Inc. | Trial completion date: Apr 2025 --> Nov 2025 | Trial primary completion date: Apr 2025 --> Nov 2025
    Trial completion date • Trial primary completion date
    |
    PMM2 (Phosphomannomutase 2)
    over1year
    Natural History Study Protocol in PMM2-CDG (CDG-Ia) (clinicaltrials.gov)
    P=N/A, N=120, Active, not recruiting, Glycomine, Inc. | Trial completion date: Dec 2024 --> Dec 2025 | Trial primary completion date: Sep 2024 --> Sep 2025
    Trial completion date • Trial primary completion date
    |
    PMM2 (Phosphomannomutase 2)
    over1year
    Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism (clinicaltrials.gov)
    P=N/A, N=510, Enrolling by invitation, Mayo Clinic | Trial completion date: Aug 2024 --> Aug 2030 | Trial primary completion date: Aug 2024 --> Aug 2030
    Trial completion date • Trial primary completion date
    |
    PMM2 (Phosphomannomutase 2)
    over1year
    Effect of aberrant fructose metabolism following SARS-CoV-2 infection on colorectal cancer patients' poor prognosis. (PubMed, PLoS Comput Biol)
    In order to validate the model's accuracy, ROC curve analysis was performed on an external dataset, and the results indicated that the model had a high predictive power for the prognosis prediction of patients. Our study provides a theoretical foundation for the future targeted regulation of fructose metabolism in colorectal cancer patients, while simultaneously optimizing dietary guidance and therapeutic care for colorectal cancer patients in the context of the COVID-19 pandemic.
    Journal
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    CTNNB1 (Catenin (cadherin-associated protein), beta 1) • TIMP1 (Tissue inhibitor of metalloproteinases 1) • FDFT1 (Farnesyl-Diphosphate Farnesyltransferase 1) • IL7 (Interleukin 7) • PMM2 (Phosphomannomutase 2)
    over1year
    Identification and Mendelian randomization validation of pathogenic gene biomarkers in obstructive sleep apnea. (PubMed, Front Neurol)
    Through WGCNA, this analysis uncovered significant genetic foundations of OSA, identifying 2,502 DEGs and 194 genes associated with the disorder. Among these, CETN3 and GTF2A2 were found to have causal relationships with OSA.
    Journal
    |
    CD4 (CD4 Molecule) • RRM2 (Ribonucleotide Reductase Regulatory Subunit M2) • PMM2 (Phosphomannomutase 2)
    over1year
    Identification and validation of endoplasmic reticulum stress-related genes that enhance immunotherapy in colon cancer. (PubMed, Transl Cancer Res)
    We established a risk model with ERS-related genes (PMM2, STC2, EIF2AK1, HSPA1A, SLC8A1, KCNQ1), which enhance the sensitivity of immunotherapy for colon cancer. These may provide a new perspective for the treatment of colon cancer.
    Journal • IO biomarker
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    SLC8A1 (Solute Carrier Family 8 Member A1) • HSPA1A (Heat Shock Protein Family A (Hsp70) Member 1A) • KCNQ1OT1 (KCNQ1 Opposite Strand/Antisense Transcript 1) • STC2 (Stanniocalcin 2) • PMM2 (Phosphomannomutase 2)