{
  "abstract": "Gaucher disease (GD) is a rare, autosomal recessive disease with reduced β-glucocerebrosidase activity, leading to symptoms including hepatosplenomegaly, anemia, thrombocytopenia, and bone disease. Velaglucerase alfa is a native human β-glucocerebrosidase preparation approved as enzyme replacement therapy for Type 1 GD in many countries and for all GD types, including neuronopathic Type 2 and Type 3, in Japan. In this report, we provide the final (up to 8 years) safety and somatic effectiveness results of an all-case, open-label, post-marketing surveillance study in Japan. Among all patients, the incidence of adverse drug reactions (ADRs) was 23.3% (14/60 patients) and serious ADRs was 8.3% (5/60 patients). In the safety analysis population (excluding patients who did not provide consent for publication), ADR incidence was 19.5% (8/41 patients), most commonly vomiting and positive antibody test (4.9% [2/41 patients] each); one patient experienced vomiting as a serious ADR. ADRs were more common in Type 2 (7/14 patients) compared with Type 1 (1/12 patients) and Type 3 (0/15 patients). Three patients (7.3%), all Type 2, had five infusion-related reactions of pyrexia, vomiting (serious), swelling of eyelid, and hypersensitivity; all resolved or recovered. In the effectiveness analysis population (patients with any effectiveness data; n = 39), hemoglobin concentration, platelet count, and plasma angiotensin-converting enzyme concentration improved by Week 48 in patients with no prior GD treatment and were maintained in patients with prior GD treatment. These results support long-term use of velaglucerase alfa in Japanese patients with all GD types, with safety and somatic effectiveness consistent with previous findings.",
  "abstract_shown": true,
  "affiliations": [
    "Japan Medical Office, Takeda Pharmaceutical Company Limited, Tokyo, Japan",
    "Department of Pediatrics, Graduate School of Medicine, Juntendo University, Tokyo, Japan",
    "Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan",
    "Department of Metabolism, Chiba Children's Hospital, Chiba City, Japan",
    "Trustee, The Jikei University School of Medicine, Tokyo, Japan",
    "Patient Safety & Pharmacovigilance Japan, Takeda Development Center Japan, Takeda Pharmaceutical Company Limited, Osaka, Japan"
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 5,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Miyako Hoshino"
    },
    {
      "affs": [
        1,
        2,
        3
      ],
      "name": "Kei Murayama"
    },
    {
      "affs": [
        4
      ],
      "name": "Hiroyuki Ida"
    },
    {
      "affs": [
        5
      ],
      "name": "Erika Asano"
    },
    {
      "affs": [
        0
      ],
      "name": "Hiromichi Otaka"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/4378tjy64cq0y.bib",
  "cited_by": 0,
  "doi": "10.1016/j.ymgmr.2026.101373",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13738124/",
  "id": "4378tjy64cq0y",
  "issns": [
    "2214-4269"
  ],
  "landing_url": "https://doi.org/10.1016/j.ymgmr.2026.101373",
  "language": "en",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Research Paper"
    ],
    [
      "openalex",
      "2716|Lysosomal Storage Disorders Research"
    ]
  ],
  "openalex": "W7224607475",
  "pdf_url": "https://www.sciencedirect.com/science/article/pii/S2214426926000856/pdf",
  "pmcid": "PMC13738124",
  "pmid": "42992142",
  "published": "2026-10-29",
  "publisher": "Elsevier",
  "ris": "https://research.draconitic.com/paper/4378tjy64cq0y.ris",
  "sources": [
    {
      "first_seen": "2026-11-09T12:23:10Z",
      "native_id": "PMC13738124",
      "source": "pmc",
      "url": "https://doi.org/10.1016/j.ymgmr.2026.101373"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2716|Lysosomal Storage Disorders Research",
      "subfield": "human-genetics"
    }
  ],
  "title": "Velaglucerase alfa for Gaucher disease in Japan: Long-term post-marketing surveillance data from a unique population with high rates of neuronopathic subtypes",
  "title_text": "Velaglucerase alfa for Gaucher disease in Japan: Long-term post-marketing surveillance data from a unique population with high rates of neuronopathic subtypes",
  "type": "peer-reviewed",
  "updated_at": "2026-11-09T12:23:10Z",
  "url": "https://research.draconitic.com/paper/4378tjy64cq0y",
  "venue": "Molecular Genetics and Metabolism Reports",
  "versions": []
}