{
  "abstract": "Background\n\nThe safety and efficacy of cipaglucosidase alfa plus miglustat (cipa+mig) versus alglucosidase alfa plus placebo (alg+pbo) in late-onset Pompe disease (LOPD) were established in the randomised, double-blind, 52-week PROPEL study (NCT03729362) conducted across 24 countries, including Japan. An open-label extension (OLE; NCT04138277) is evaluating long-term cipa+mig outcomes. In Japan, cipa+mig was also available before marketing authorisation in an expanded access study (ATB200-19). This case series summarises the efficacy and safety of cipa+mig in Japanese patients in PROPEL, PROPEL OLE and ATB200-19.Methods\n\nEndpoints included 6-minute walk distance (6MWD), forced vital capacity (FVC), biomarkers and safety. Cipa+mig (20 mg/kg intravenous cipa and 130-260 mg oral mig (weight-based dosing)) and alg+pbo (20 mg/kg intravenous alg and oral pbo) were given biweekly. Patients randomised to alg+pbo in PROPEL received cipa+mig in the OLE. Safety was assessed at every visit, and biomarkers at weeks 2, 4, 6, 12, 26, 38, 52 and every 26 weeks thereafter.Results\n\nSix patients from PROPEL/OLE (cipa+mig, n=2; alg+pbo, n=4; all enrolled in the OLE) and four from ATB200-19 were included. Two patients discontinued treatment: one in the OLE (anaphylactic reaction) and one in ATB200-19 (withdrawal of consent). For evaluable patients (n=8), 6MWD remained stable or improved from baseline to weeks 52 and 104. In PROPEL/OLE, FVC varied with most patients improving with cipa+mig treatment; in ATB200-19, FVC remained stable to week 104. In PROPEL/OLE and ATB200-19, biomarker levels improved or stabilised by week 104, including in the PROPEL switch group, where levels worsened at week 52 but improved after switching to cipa+mig. Seven patients experienced treatment-related adverse events. No deaths occurred.Conclusions\n\nAlthough the number of patients was small, the efficacy and safety of cipa+mig in Japanese patients from PROPEL/OLE and ATB200-19 were generally sustained and durable responses consistent with positive results in the overall PROPEL population.",
  "abstract_shown": true,
  "affiliations": [
    "Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, Tokyo, Japan.",
    "Department of Pediatrics, ISEIKAI International General Hospital, Osaka, Japan.",
    "Division of Child Neurology, Institute of Neurological Science, Tottori University Faculty of Medicine, Yonago, Japan.",
    "Department of Neurology, Kobe City Medical Center General Hospital, Kobe, Japan.",
    "BioMarin Pharmaceutical Japan K.K, Tokyo, Japan.",
    "Amicus Therapeutics UK Ltd, Marlow, UK.",
    "BioMarin UK Ltd, London, UK."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 6,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Hiroshi Kobayashi"
    },
    {
      "affs": [
        1,
        2
      ],
      "name": "Aya Narita"
    },
    {
      "affs": [
        3
      ],
      "name": "Michi Kawamoto"
    },
    {
      "affs": [
        4
      ],
      "name": "Junjiro Saeki"
    },
    {
      "affs": [
        5
      ],
      "name": "Ryan Graham"
    },
    {
      "affs": [
        6
      ],
      "name": "William Kerr",
      "orcid": "0009-0003-7767-6957"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/454gdfndat1kw.bib",
  "cited_by": 0,
  "doi": "10.1136/bmjno-2025-001480",
  "fulltext_url": "https://europepmc.org/articles/PMC13691752",
  "id": "454gdfndat1kw",
  "issns": [
    "2632-6140"
  ],
  "landing_url": "https://europepmc.org/article/MED/42921145",
  "language": "eng",
  "licence": "CC-BY-NC",
  "licence_label": "CC BY-NC",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2737|Lysosomal Storage Disorders Research"
    ]
  ],
  "openalex": "W7222504121",
  "pdf_url": "https://europepmc.org/articles/PMC13691752?pdf=render",
  "pmcid": "PMC13691752",
  "pmid": "42921145",
  "published": "2026-10-16",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/454gdfndat1kw.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:20:33Z",
      "native_id": "MED:42921145",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42921145"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2737|Lysosomal Storage Disorders Research",
      "subfield": "physiology"
    }
  ],
  "title": "Efficacy and safety of cipaglucosidase alfa plus miglustat in Japanese adults with late-onset Pompe disease: a case series from clinical trials.",
  "title_text": "Efficacy and safety of cipaglucosidase alfa plus miglustat in Japanese adults with late-onset Pompe disease: a case series from clinical trials.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:20:33Z",
  "url": "https://research.draconitic.com/paper/454gdfndat1kw",
  "venue": "BMJ neurology open",
  "versions": []
}