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  1. Last 7 days
  2. ec.bioscientifica.com ec.bioscientifica.com
    Skeletal muscle metabolism during prolonged exercise in Pompe disease
    1
    1. ClingenBaseline 21 Oct 2026
      1

      Case1: Female, Danish, 38 years report, 25 years onset

      CasePresentingHPOs: HP:0008956 (Thigh muscle atrophy)

      HPOsFreeText: 6-min walk test achieved 531 m, MRC score is 4/5 (thigh/calf), Forced vital capacity sitting/supine is 2.8/2.2 (L)

      NotHPOsFreetext: Not on ERT

      GroupGenotypingMethod: Mutation Analysis on the GAA Gene

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

      CAID: CA913184742 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA913184742

      gnomAD: Not in gnomAD

      Variant2: NM_000152.4:c.307T>G (p.Cys103Gly)

      ClinVar: 92483 https://www.ncbi.nlm.nih.gov/clinvar/variation/92483/

      gnomAD: European (Non-Finnish) 7.874e-6, Overall 3.578e-6 http://gnomad.broadinstitute.org/variant/17-78078692-T-G

      CaseAddInfo: Late Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod CA913184742 ClinVarID:92483 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    ec.bioscientifica.com/view/journals/ec/6/6/384.xml
  3. 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 21 Oct 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 3

      Variant1: NM_000152.3:c.2481+102_2646+31del

      CAID: CA658795291, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.3%3Ac.2481%2B102_2646%2B31del

      gnomAD: n/a

      Variant2: NM_000152.4(GAA):c.307T>G (p.Cys103Gly)

      ClinVar: 92483, https://www.ncbi.nlm.nih.gov/clinvar/variation/92483/

      gnomAD: n/a

      Individual CaseInfo Variant CA658795291 ClinVarID:92483 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    nature.com/articles/gim20182
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease
    1
    1. ClingenBaseline 21 Oct 2026
      16

      Case#: Subject number 16, male, 64 years (report), 56 years (onset), 60 years (diagnosis)

      DiseaseAssertion: Pompe disease

      FamilyInfo: N/A

      CasePresentingHPOs:

      CaseHPOFreeText: on BiPAP, ambulatory, assistive device (cane)

      CaseNotHPOs: HP:0009830, HP:0000360, HP:0002650, HP:0000939, HP:0000821, HP:0000365, HP:0002617, HP:0100647, HP:0010788, HP:0001638 (peripheral neuropathy, tinnitus, scoliosis, osteoporosis, hypothyroidism, hearing loss, aneurysm, Graves disease, Testicular cancer, cardiomyopathy)

      CaseNotHPOFreeText: no infusion reaction, no tracheostomy

      CasePreviousTesting: “documented deficiency of acid alpha-glucosidase enzyme activity”; on enzyme replacement therapy

      Variant 1: NM_000152.5(GAA):c.-32-13T>G (p.Tyr766Ser)

      Variant 1 ClinVarID: 4027

      Variant 1 CAid: CA116606

      Variant 2: NM_000152.5(GAA):c.307T>G

      Variant 2 ClinVarID: 92483

      Variant 2 CAid: CA220404

      Zygosity: Compound heterozygous

      ParentalGenotype: N/A

      Gene:GAA DiseaseEntity:PompeDisease Individual CaseInfo ClinVarID:4027 CAid:CA116606 ClinVarID:92483 CAid:CA220404 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC6642945/