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  1. Last 7 days
  2. www.nature.com www.nature.com
    Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study
    1
    1. ClingenBaseline 06 Nov 2026
      Ten patients received concomitant immunomodulation (detailed in Supplementary Table S4); six were genotype-predicted as CRIM-negative, three were CRIM-positive, and one lacked genotype data.

      Patient 10

      Variant1: NM_000152.4(GAA):c.2237G>A (p.Trp746Ter)

      ClinVar: 280063, https://www.ncbi.nlm.nih.gov/clinvar/variation/280063/

      gnomAD: 0.000003988, http://gnomad.broadinstitute.org/variant/17-78090814-G-A

      Variant2: NM_000152.4(GAA):c.1128_1129delGGinsC (p.Trp376Cysfs)

      ClinVar: 189041, https://www.ncbi.nlm.nih.gov/clinvar/variation/189041/

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:280063 ClinVarID:189041 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    nature.com/articles/gim20182
  3. www.sciencedirect.com www.sciencedirect.com
    Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5 years
    1
    1. ClingenBaseline 06 Nov 2026
      21

      Patient21: Male, 56yo at diagnosis and ERT

      CasePresentingHPOs:

      HPOsFreeText: anti rh-GAA antibodies titre = 1:1600, enzyme (μmol/g/h) = 0.57 (2-10), NIV and mobility aid required before and after ERT, developed wheelchair dependence after ERT

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 35yr disease duration, variants in trans

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.-32-13T>G

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4(GAA):c.1128_1129delGGinsC (p.Trp376Cysfs)

      ClinVar: 189041, https://www.ncbi.nlm.nih.gov/clinvar/variation/189041/

      gnomAD: n/a

      Individual Variant CaseInfo EnzymeActivity ClinVarID:4027 ClinVarID:189041 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    sciencedirect.com/science/article/pii/S1096719216300129
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    2-deoxy-2-[18]fluoro-D-glucose PET/CT (18FDG PET/CT) may not be a viable biomarker in Pompe disease
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    ncbi.nlm.nih.gov/pmc/articles/PMC5845361/