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  1. Oct 2026
  2. www.sciencedirect.com www.sciencedirect.com
    Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease
    1
    1. ClingenBaseline 27 Oct 2026
      III

      CaseIII: Adult onset, 63 years diagnosis

      CasePresentingHPOs: HP:0003701, HP:0003388, HP:0003236, HP:0003198, HP:0002460, HP:0002015 (Proximal muscle weakness, Easy fatigability, Increased serum CK, Myopathy, Distal muscle weakness, Dysphagia)

      HPOsFreeText: Plasma CK 2.5–5× Normal, GAA activity from muscle: 11.7%

      CaseNotHPOs: HP:0002795 (Abnormal respiration)

      CaseAddInfo: Late-Onset Pompe Disease

      Individual CaseInfo ClinVarID:4023 ClinVarID:4027 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    sciencedirect.com/science/article/pii/S096089661731489X
  3. 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
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5845361/
  4. www.sciencedirect.com www.sciencedirect.com
    The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients
    1
    1. ClingenBaseline 25 Oct 2026
      2

      Patient2: female

      CasePresentingHPOs: HP:0004887, HP:0002194, HP:0001263, HP:0002463, HP:0002870, HP:0011003, HP:0002289

      HPOsFreeText: ERT dosage = 20 mg/kg/2 w, use of BiPAP, could sit independently, HCM reversal, CRIM positive, BiPAP ventilation at night

      CaseNotHPOs: HP:0000407

      NotHPOsFreeText:

      CaseAddInfo: Symptom onset and diagnosis at 1d, ERT at 3w, required BiPAP at 57mo, ERT lasted for 77mo, currently 6.5yo

      CasePMIDs: 8401535

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.1927G>A (p.Gly643Arg)

      ClinVar: 4023, https://www.ncbi.nlm.nih.gov/clinvar/variation/4023/

      gnomAD: 5.884e-05, http://exac.broadinstitute.org/variant/17-78086713-G-A

      Individual CaseInfo Variant ClinVarID:4023 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    sciencedirect.com/science/article/pii/S221442691730160X
  5. ojrd.biomedcentral.com ojrd.biomedcentral.com
    Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy
    2
    1. ClingenBaseline 25 Oct 2026
      22/F

      Patient22: Female

      CasePresentingHPOs: HP:0004887, HP:0011471, HP:0001371

      HPOsFreeText: CRIM positive, tracheostomy, able to sit independently, heart normalization

      CaseNotHPOs: HP:0002546, HP:0000365

      NotHPOsFreeText: infusion associated reaction

      CaseAddInfo: homozygous variants in trans, symptom onset and diagnosis at 4yo, ERT at 5yo

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.1927G>A (p.Gly643Arg)

      ClinVar: 4023, https://www.ncbi.nlm.nih.gov/clinvar/variation/4023/

      gnomAD: 0.00002479, http://gnomad.broadinstitute.org/variant/17-78086713-G-A

      Individual CaseInfo Variant ClinVarID:4023 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    2. ClingenBaseline 25 Oct 2026
      21/F

      Patient 21: Female

      CasePresentingHPOs: HP:0004887, HP:0011471, HP:0002546, HP:0000365, HP:0001371, HP:0100845

      HPOsFreeText: CRIM positive, infusion associated reaction, tracheostomy, able to sit independently, heart normalization

      CaseNotHPOs:

      CaseAddInfo: variants in trans, symptom onset at birth, diagnosis at 19 days, ERT at 1yo

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.3:c.930_932del

      CAID: CA913184760, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA913184760

      Variant2: NM_000152.4(GAA):c.1927G>A (p.Gly643Arg)

      ClinVar: 4023, https://www.ncbi.nlm.nih.gov/clinvar/variation/4023/

      gnomAD: 0.00002479, http://gnomad.broadinstitute.org/variant/17-78086713-G-A

      Individual CaseInfo Variant CA913184760 ClinVarID:4023 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    ojrd.biomedcentral.com/articles/10.1186/s13023-018-0771-0
  6. air.unimi.it air.unimi.it
    Effects of short‐to‐long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)
    4
    1. ClingenBaseline 25 Oct 2026
      3

      Case3: Male, 30 years onset, 66 years diagnosis, Italy

      HPOsFreeText: See Group Phenotypes, ERT started at 67, GAA Activity at ~8 pmol/min/mg before ERT and ~10 after

      GroupGenotypingMethod: PCR Amplification and GAA Gene Sequencing

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

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

      gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4:c.1927G>A (p.Gly643Arg)

      ClinVar: 4023 https://www.ncbi.nlm.nih.gov/clinvar/variation/4023/

      gnomAD: European (Non-Finnish) 3.667e-5, Overall 2.479e-5 http://gnomad.broadinstitute.org/variant/17-78086713-G-A

      CaseAddInfo: Late Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4027 ClinVarID:4023 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    2. ClingenBaseline 25 Oct 2026
      1

      Case1: Male, 21 years onset, 31 years diagnosis, Italy

      HPOsFreeText: See Group Phenotypes, ERT started at 31, GAA Activity at ~7.5 pmol/min/mg before ERT and ~8 after

      GroupGenotypingMethod: PCR Amplification and GAA Gene Sequencing

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

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

      gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4:c.1927G>A (p.Gly643Arg)

      ClinVar: 4023 https://www.ncbi.nlm.nih.gov/clinvar/variation/4023/

      gnomAD: European (Non-Finnish) 3.667e-5, Overall 2.479e-5 http://gnomad.broadinstitute.org/variant/17-78086713-G-A

      CaseAddInfo: Late Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4027 ClinVarID:4023 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    3. ClingenBaseline 23 Oct 2026
      4

      Case4: Female, 40 years onset, 51 years diagnosis, Italy

      HPOsFreeText: See Group Phenotypes, ERT started at 51, GAA Activity at ~7.5 pmol/min/mg before ERT and ~11 after

      GroupGenotypingMethod: PCR Amplification and GAA Gene Sequencing

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

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

      gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4:c.525delT (p.Glu176Argfs*45)

      ClinVar: 4033 https://www.ncbi.nlm.nih.gov/clinvar/variation/4033/

      gnomAD: European (Non-Finnish) 1.880e-4, Overall 9.959e-5 http://gnomad.broadinstitute.org/variant/17-78078909-CT-C

      CaseAddInfo: Late Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4027 ClinVarID:4023 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    4. ClingenBaseline 21 Oct 2026
      14

      Case14: Female, 15 years onset, 16 years diagnosis, Italy

      HPOsFreeText: See Group Phenotypes, ERT started at 16, GAA Activity at ~8 pmol/min/mg before ERT and ~12 after

      GroupGenotypingMethod: PCR Amplification and GAA Gene Sequencing

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

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

      gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4:c.1927G>A (p.Gly643Arg)

      ClinVar: 4023 https://www.ncbi.nlm.nih.gov/clinvar/variation/4023/

      gnomAD: European (Non-Finnish) 3.667e-5, Overall 2.479e-5 http://gnomad.broadinstitute.org/variant/17-78086713-G-A

      CaseAddInfo: Late Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4027 ClinVarID:4023 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    air.unimi.it/retrieve/handle/2434/514084/879921/Ripolone_et_al-2017-Neuropathology_and_Applied_Neurobiology AIR.pdf
  7. jnnp.bmj.com jnnp.bmj.com
    LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population
    2
    1. ClingenBaseline 23 Oct 2026
      7

      Case#: Patient 7, female

      CasePresentingHPOs: HP:0003236, HP:0003325

      CaseAddInfo: 53yo at onset, 55yo at diagnosis

      VariantAllele1: 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

      VariantAllele2: NM_000152.4(GAA):c.1927G>A (p.Gly643Arg)

      ClinVar: 4023, https://www.ncbi.nlm.nih.gov/clinvar/variation/4023/

      gnomAD: 5.884e-05, http://exac.broadinstitute.org/variant/17-78086713-G-A

      Individual CaseInfo ClinVarID:4027 ClinVarID:4023 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    2. ClingenBaseline 23 Oct 2026
      15

      Case#: Patient 15, female

      CasePresentingHPOs: HP:0003236, HP:0003325

      CaseAddInfo: 42yo at onset, 52yo at diagnosis

      VariantAllele1: 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

      VariantAllele2: NM_000152.4(GAA):c.1927G>A (p.Gly643Arg)

      ClinVar: 4023, https://www.ncbi.nlm.nih.gov/clinvar/variation/4023/

      gnomAD: 5.884e-05, http://exac.broadinstitute.org/variant/17-78086713-G-A

      Individual CaseInfo ClinVarID:4027 ClinVarID:4023 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    jnnp.bmj.com/content/87/1/5
  8. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients
    1
    1. ClingenBaseline 22 Oct 2026

      Case10: Male, 80 years report

      HPOsFreeText: 7 years of ERT completed, 6 Minute Walking Test at 220 meters, Forced Vital Capacity at 44%

      GenotypingMethod: GAA Gene Sequencing

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

      ClinVar: 4027 http://www.ncbi.nlm.nih.gov/clinvar/variation/4027

      gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4:c.1927G>A (p.Gly643Arg)

      ClinVar: 4023 https://www.ncbi.nlm.nih.gov/clinvar/variation/4023/

      gnomAD: European (Non-Finnish) 3.667e-5, Overall 2.479e-5 http://gnomad.broadinstitute.org/variant/17-78086713-G-A

      CaseAddInfo: Late Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4027 ClinVarID:4023 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5096052/