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  1. Article ; Online: [Current status and future prospect of enzyme replacement therapy for Fabry disease].

    Ohashi, Toya

    Rinsho shinkeigaku = Clinical neurology

    2019  Volume 59, Issue 6, Page(s) 335–338

    Abstract: Fabry disease is characterized by deficient activity of α-galactosidase A, which results in accumulation of glycolipids, such as globotriaosylceremide, in various tissue. Clinical symptoms are varied. In childhood, pain in extremities, hypohidrosis, and ... ...

    Abstract Fabry disease is characterized by deficient activity of α-galactosidase A, which results in accumulation of glycolipids, such as globotriaosylceremide, in various tissue. Clinical symptoms are varied. In childhood, pain in extremities, hypohidrosis, and angiokeratoma are main symptoms, In adulthood, renal, cardiac and cerebrovascular symptoms are occurred In past, only symptomatic treatments were available. In early 2000th, enzyme replacement therapy was developed after positive results of clinical trials. Ten years after approval, the data of long term safety and efficacy of enzyme replacement.
    MeSH term(s) 1-Deoxynojirimycin/administration & dosage ; 1-Deoxynojirimycin/analogs & derivatives ; Animals ; Chromosomes, Human, X/enzymology ; Drug Approval ; Enzyme Replacement Therapy/methods ; Enzyme Replacement Therapy/trends ; Fabry Disease/drug therapy ; Fabry Disease/enzymology ; Fabry Disease/genetics ; Fabry Disease/metabolism ; Female ; Globosides/metabolism ; Humans ; Isoenzymes/administration & dosage ; Male ; Mice ; Molecular Chaperones/administration & dosage ; Mutation ; Randomized Controlled Trials as Topic ; Recombinant Proteins/administration & dosage ; Treatment Outcome ; alpha-Galactosidase/administration & dosage ; alpha-Galactosidase/genetics
    Chemical Substances Globosides ; Isoenzymes ; Molecular Chaperones ; Recombinant Proteins ; globotetraosylceramide (11034-93-8) ; 1-Deoxynojirimycin (19130-96-2) ; agalsidase alfa (2HLC17MX9G) ; migalastat (C4XNY919FW) ; alpha-Galactosidase (EC 3.2.1.22) ; agalsidase beta (RZD65TSM9U)
    Language Japanese
    Publishing date 2019-05-29
    Publishing country Japan
    Document type Journal Article ; Review
    ZDB-ID 604200-4
    ISSN 1882-0654 ; 0009-918X
    ISSN (online) 1882-0654
    ISSN 0009-918X
    DOI 10.5692/clinicalneurol.cn-001246
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Gene therapy for lysosomal storage diseases and peroxisomal diseases.

    Ohashi, Toya

    Journal of human genetics

    2018  Volume 64, Issue 2, Page(s) 139–143

    Abstract: Gene therapies for lysosomal storage diseases (LSD) and peroxisomal diseases (PD) are rapidly advancing. Most LSDs and PDs are characterized by brain involvement, prompting the development of therapies targeting the brain. There are two types of gene ... ...

    Abstract Gene therapies for lysosomal storage diseases (LSD) and peroxisomal diseases (PD) are rapidly advancing. Most LSDs and PDs are characterized by brain involvement, prompting the development of therapies targeting the brain. There are two types of gene therapy for brain involvement in LSD and PD, i.e., the direct transfer of a therapeutic gene into brain cells and hematopoietic stem cell-targeted gene therapy. The rationale for the latter approach is that brain microglia are derived from hematopoietic cells. Thus, gene-corrected hematopoietic cells migrate into the brain and differentiate into microglial cells. These gene-corrected microglial cells correct the metabolic defects associated with LSD and reduce inflammation in PD and LSD, leading to a clinical benefit. Gene editing technology has recently been applied in this area and a trial focused on LSD is currently ongoing. Although these approaches are still under investigation, very encouraging results have been obtained. This review provides an overview of recently developed gene therapies for various LSDs and PDs, including the results of clinical trials, with an emphasis on the benefits of this approach for these diseases.
    MeSH term(s) Animals ; Enzyme Replacement Therapy ; Genetic Therapy ; Humans ; Lysosomal Storage Diseases/genetics ; Lysosomal Storage Diseases/therapy ; Peroxisomal Disorders/genetics ; Peroxisomal Disorders/therapy
    Language English
    Publishing date 2018-11-29
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 1425192-9
    ISSN 1435-232X ; 1434-5161
    ISSN (online) 1435-232X
    ISSN 1434-5161
    DOI 10.1038/s10038-018-0537-5
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  3. Article: Enzyme replacement therapy for lysosomal storage diseases.

    Ohashi, Toya

    Pediatric endocrinology reviews : PER

    2012  Volume 10 Suppl 1, Page(s) 26–34

    Abstract: Enzyme replacement therapy (ERT) has been approved for 6 lysosomal storage diseases (LSDs) worldwide including Japan. These diseases include Gaucher disease (GD), Fabry disease, mucopolysaccharidosis (MPS) types I, II, and VI, and Pompe disease (PD). The ...

    Abstract Enzyme replacement therapy (ERT) has been approved for 6 lysosomal storage diseases (LSDs) worldwide including Japan. These diseases include Gaucher disease (GD), Fabry disease, mucopolysaccharidosis (MPS) types I, II, and VI, and Pompe disease (PD). The efficacy and safety of ERT for LSDs has been confirmed by extensive clinical trials. However, there are still obstacles to successful ERT, such as immune reactions against the infused enzyme, mistargeting of enzymes rather than lysosomes, and intractable tissues. Regarding immune reactions, a negative impact of antibody formation on therapeutic effect has been reported for GD, Fabry disease, MPS type I, and PD. In PD, mistargeting of the enzyme was reported in a mouse model due to autophagic build up. Another challenge is intractable tissues, such as the brain and bone, which are key tissues in LSDs. Thus, control of immune reactions against therapeutic enzymes and control of autophagic build up are key issues to maximize the efficacy of ERT. Finally, the development of a new enzyme that effectively targets the brain and bone is very important to improve the quality of life of patients with LSDs.
    MeSH term(s) Animals ; Child ; Enzyme Replacement Therapy/methods ; Humans ; Lysosomal Storage Diseases/drug therapy
    Language English
    Publishing date 2012-10
    Publishing country Israel
    Document type Journal Article ; Review
    ZDB-ID 2434390-0
    ISSN 1565-4753
    ISSN 1565-4753
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  4. Article ; Online: A novel preclinical model of mucopolysaccharidosis type II for developing human hematopoietic stem cell gene therapy.

    Shimada, Yohta / Ishii, Natsumi / Higuchi, Takashi / Goto, Motohito / Ohashi, Toya / Kobayashi, Hiroshi

    Gene therapy

    2022  Volume 30, Issue 3-4, Page(s) 288–296

    Abstract: A hematopoietic stem cell (HSC) gene therapy (GT) using lentiviral vectors has attracted interest as a promising treatment approach for neuropathic lysosomal storage diseases. To proceed with the clinical development of HSC-GT, evaluation of the ... ...

    Abstract A hematopoietic stem cell (HSC) gene therapy (GT) using lentiviral vectors has attracted interest as a promising treatment approach for neuropathic lysosomal storage diseases. To proceed with the clinical development of HSC-GT, evaluation of the therapeutic potential of gene-transduced human CD34+ (hCD34+) cells in vivo is one of the key issues before human trials. Here, we established an immunodeficient murine model of mucopolysaccharidosis type II (MPS II), which are transplantable human cells, and demonstrated the application of those mice in evaluating the therapeutic efficacy of gene-modified hCD34+ cells. NOG/MPS II mice, which were generated using CRISPR/Cas9, exhibited a reduction of disease-causing enzyme iduronate-2-sulfatatase (IDS) activity and the accumulation of glycosaminoglycans in their tissues. When we transplanted hCD34+ cells transduced with a lentiviral vector carrying the IDS gene into NOG/MPS II mice, a significant amelioration of biochemical pathophenotypes was observed in the visceral and neuronal tissues of those mice. In addition, grafted cells in the NOG/MPS II mice showed the oligoclonal integration pattern of the vector, but no obvious clonal dominance was detected in the mice. Our findings indicate the promising application of NOG/MPS II mice to preclinical study of HSC-GT for MPS II using human cells.
    MeSH term(s) Humans ; Animals ; Mice ; Mucopolysaccharidosis II/genetics ; Mucopolysaccharidosis II/therapy ; Mucopolysaccharidosis II/metabolism ; Genetic Therapy ; Glycosaminoglycans/metabolism ; Hematopoietic Stem Cells/metabolism ; Disease Models, Animal
    Chemical Substances Glycosaminoglycans
    Language English
    Publishing date 2022-07-14
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1191036-7
    ISSN 1476-5462 ; 0969-7128
    ISSN (online) 1476-5462
    ISSN 0969-7128
    DOI 10.1038/s41434-022-00357-y
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  5. Article: [Gene therapy for lysosomal storage diseases].

    Ohashi, Toya

    Nihon rinsho. Japanese journal of clinical medicine

    2010  Volume 68 Suppl 8, Page(s) 665–669

    MeSH term(s) Animals ; Genetic Therapy/methods ; Humans ; Lysosomal Storage Diseases/therapy
    Language Japanese
    Publishing date 2010-08
    Publishing country Japan
    Document type Journal Article
    ZDB-ID 390903-7
    ISSN 0047-1852
    ISSN 0047-1852
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  6. Article: Hematopoietic stem cell gene therapy ameliorates CNS involvement in murine model of GM1-gangliosidosis.

    Tsunogai, Toshiki / Ohashi, Toya / Shimada, Yohta / Higuchi, Takashi / Kimura, Ayaka / Watabe, Ayako M / Kato, Fusao / Ida, Hiroyuki / Kobayashi, Hiroshi

    Molecular therapy. Methods & clinical development

    2022  Volume 25, Page(s) 448–460

    Abstract: GM1-gangliosidosis is a progressive neurodegenerative glycosphingolipidosis resulting from ... ...

    Abstract GM1-gangliosidosis is a progressive neurodegenerative glycosphingolipidosis resulting from a
    Language English
    Publishing date 2022-04-28
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2872938-9
    ISSN 2329-0501 ; 2329-0501
    ISSN (online) 2329-0501
    ISSN 2329-0501
    DOI 10.1016/j.omtm.2022.04.012
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  7. Article: Erratum: Hematopoietic stem cell gene therapy ameliorates CNS involvement in murine model of GM1-gangliosidosis.

    Tsunogai, Toshiki / Ohashi, Toya / Shimada, Yohta / Higuchi, Takashi / Kimura, Ayaka / Watabe, Ayako M / Kato, Fusao / Ida, Hiroyuki / Kobayashi, Hiroshi

    Molecular therapy. Methods & clinical development

    2022  Volume 27, Page(s) 89

    Abstract: This corrects the article DOI: 10.1016/j.omtm.2022.04.012.]. ...

    Abstract [This corrects the article DOI: 10.1016/j.omtm.2022.04.012.].
    Language English
    Publishing date 2022-09-21
    Publishing country United States
    Document type Published Erratum
    ZDB-ID 2872938-9
    ISSN 2329-0501 ; 2329-0501
    ISSN (online) 2329-0501
    ISSN 2329-0501
    DOI 10.1016/j.omtm.2022.09.004
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  8. Article ; Online: Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.

    Kobayashi, Masahisa / Ohashi, Toya / Kaneshiro, Eiko / Higuchi, Takashi / Ida, Hiroyuki

    Journal of human genetics

    2019  Volume 64, Issue 7, Page(s) 695–699

    Abstract: The efficacy of pharmacological chaperone therapy for Fabry disease depends on the type of α-galactosidase A (GLA) mutations. Here, we examined the mutation spectrum of the GLA gene among patients from 115 Japanese families with Fabry disease. Of these, ... ...

    Abstract The efficacy of pharmacological chaperone therapy for Fabry disease depends on the type of α-galactosidase A (GLA) mutations. Here, we examined the mutation spectrum of the GLA gene among patients from 115 Japanese families with Fabry disease. Of these, no pathogenic mutations were identified in six families (5.2%). In total, 73 different disease-causing mutations were identified: 41 missense (56.2%), 11 nonsense (15.1%), four in frame deletion (5.5%), 10 frameshift (13.7%), six splice site (8.2%), and one intronic (1.4%) mutations. The GLA mutations detected in later-onset phenotype patients with end-stage renal disease overlapped with those seen in classical patients, indicating that it is difficult to differentiate between these two phenotypes from gene mutations. Additionally, 33 families (28.7%) had amenable mutations to the pharmacological chaperone migalastat. In conclusion, our study is informative when considering genetic counseling and pharmacological chaperon therapy for Fabry disease.
    MeSH term(s) 1-Deoxynojirimycin/analogs & derivatives ; 1-Deoxynojirimycin/therapeutic use ; Fabry Disease/drug therapy ; Fabry Disease/genetics ; Female ; Frameshift Mutation ; Humans ; Japan ; Male ; Mutation ; Mutation, Missense ; Sequence Deletion ; alpha-Galactosidase/genetics
    Chemical Substances 1-Deoxynojirimycin (19130-96-2) ; migalastat (C4XNY919FW) ; alpha-Galactosidase (EC 3.2.1.22)
    Language English
    Publishing date 2019-04-15
    Publishing country England
    Document type Journal Article
    ZDB-ID 1425192-9
    ISSN 1435-232X ; 1434-5161
    ISSN (online) 1435-232X
    ISSN 1434-5161
    DOI 10.1038/s10038-019-0599-z
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  9. Article: Massive accumulation of globotriaosylceramide in various tissues from a Fabry patient with a high antibody titer against alpha-galactosidase A after 6 years of enzyme replacement therapy.

    Hongo, Kenichi / Harada, Toru / Fukuro, Eiko / Kobayashi, Masahisa / Ohashi, Toya / Eto, Yoshikatsu

    Molecular genetics and metabolism reports

    2020  Volume 24, Page(s) 100623

    Abstract: Fabry disease is an X-linked metabolic disorder due to a pathogenic mutation of the GLA gene. The accumulation of globotriaosylceramide (Gb3) damages multiple organs, including the heart, kidney and nervous system, especially in classical type Fabry ... ...

    Abstract Fabry disease is an X-linked metabolic disorder due to a pathogenic mutation of the GLA gene. The accumulation of globotriaosylceramide (Gb3) damages multiple organs, including the heart, kidney and nervous system, especially in classical type Fabry disease. Enzyme replacement therapy (ERT) using recombinant alpha-galactosidase A has been shown to remove Gb3 from organs and to improve the prognosis of Fabry disease. We herein report the case of a 67-year-old classical type Fabry patient who had been treated with ERT for 6 years and who continuously showed a high antibody titer against recombinant alpha-galactosidase A during therapy. A post-mortem examination was performed after sudden death. A histological examination revealed the massive accumulation of Gb3 in various organs, even after long term ERT. In addition to the typical pathological findings as reported in tissue biopsy samples, the serious accumulation of Gb3 in the cardiac conduction system and the endocrine system was detected. Since the start of ERT for this patient might be too late to improve organ damage and prognosis, ERT should be started before the appearance of major organ involvement for the effective elimination of Gb3 and changes in the therapeutic strategy might be considered if the patient shows a high antibody titer against recombinant alpha-galactosidase A.
    Language English
    Publishing date 2020-07-16
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2821908-9
    ISSN 2214-4269
    ISSN 2214-4269
    DOI 10.1016/j.ymgmr.2020.100623
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  10. Article: [Gene analysis of Gaucher disease].

    Ohashi, Toya

    Nihon rinsho. Japanese journal of clinical medicine

    2005  Volume 63, Issue 3, Page(s) 498–500

    Abstract: Gaucher disease is a lysosomal storage disease, which is characterized by genetic deficiency of glucocerebrosidase. As a result, the glucocerebroside is accumulated in macrophage lineage cells. Depends of presence of neurological symptoms, onset of ... ...

    Abstract Gaucher disease is a lysosomal storage disease, which is characterized by genetic deficiency of glucocerebrosidase. As a result, the glucocerebroside is accumulated in macrophage lineage cells. Depends of presence of neurological symptoms, onset of disease and severity of disease, the disease is divided into three phenotypes. More than 180 mutations were reported and phenotype/genotype relations was somehow elucidated.
    MeSH term(s) Gaucher Disease/genetics ; Humans ; Mutation
    Language Japanese
    Publishing date 2005-03
    Publishing country Japan
    Document type English Abstract ; Journal Article ; Review
    ZDB-ID 390903-7
    ISSN 0047-1852
    ISSN 0047-1852
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