論文

ムコ多糖症

• Analysis of caregiver perspectives on patients with mucopolysaccharidosis II treated with pabinafusp alfa: results of qualitative interviews in Japan
  Nakamura K, et al. Orphanet J Rare Dis. 2024 Mar 7;19(1):104. doi: 10.1186/s13023-024-03112-1.
• α-L-iduronidase fused with humanized anti-human transferrin receptor antibody (lepunafusp alfa) for mucopolysaccharidosis type I: A phase 1/2 trial
  Harmatz P, et al. Mol Ther. 2024 Mar 6;32(3):609-618. doi: 10.1016/j.ymthe.2024.01.009.
• Transferrin Receptor-Targeted Iduronate-2-sulfatase Penetrates the Blood-Retinal Barrier and Improves Retinopathy in Mucopolysaccharidosis II Mice
  Imakiire A, et al. Mol Pharm. 2023 Nov 6;20(11):5901-5909. doi: 10.1021/acs.molpharmaceut.3c00736.
• Transferrin receptor-targeting property of pabinafusp alfa facilitates its uptake by various types of human brain-derived cells in vitro
  Fukatsu T, et al. Front Drug Deliv. 2023 Jul 3;3:1082672. doi: 10.3389/fddev.2023.1082672.
• Enzyme replacement with transferrin receptor-targeted α-L-iduronidase rescues brain pathology in mucopolysaccharidosis I mice
  Kida S, et al. Mol Ther Methods Clin Dev. 2023 May 12;29:439-449. doi: 10.1016/j.omtm.2023.05.010.
• Pathogenic Roles of Heparan Sulfate and Its Use as a Biomarker in Mucopolysaccharidoses
  Minami K, et al. Int J Mol Sci. 2022 Oct 3;23(19):11724. doi: 10.3390/ijms231911724.
• Drug delivery for neuronopathic lysosomal storage diseases: evolving roles of the blood brain barrier and cerebrospinal fluid
  Sato Y, et al. Metab Brain Dis. 2022 Aug;37(6):1745-1756. doi: 10.1007/s11011-021-00893-3.
• Treatment of Neuronopathic Mucopolysaccharidoses with Blood-Brain Barrier-Crossing Enzymes: Clinical Application of Receptor-Mediated Transcytosis
  Sonoda H, et al. Pharmaceutics. 2022 Jun 11;14(6):1240. doi: 10.3390/pharmaceutics14061240.
• Dose-dependent effects of a brain-penetrating iduronate-2-sulfatase on neurobehavioral impairments in mucopolysaccharidosis II mice
  Morimoto H, et al. Mol Ther Methods Clin Dev. 2022 May 10;25:534-544. doi: 10.1016/j.omtm.2022.05.002.
• New hope for an old battle: Fighting Hunter disease
  Daher AS, et al. J Paediatr Child Health. 2022 Feb;58(2):360. doi: 10.1111/jpc.15796.
• Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data
  Giugliani R, et al. Int J Mol Sci. 2021 Oct 10;22(20):10938. doi: 10.3390/ijms222010938.
• Divergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type II (Hunter syndrome) receiving conventional and novel enzyme replacement therapies: A case report
  Tomita K, et al. JIMD Rep. 2021 Jul 27;62(1):9-14. doi: 10.1002/jmd2.12239.
• Iduronate-2-sulfatase fused with anti-hTfR antibody, pabinafusp alfa, for MPS-II: A phase 2 trial in Brazil
  Giugliani R, et al. Mol Ther. 2021 Jul 7;29(7):2378-2386. doi: 10.1016/j.ymthe.2021.03.019.
• Clearance of heparan sulfate in the brain prevents neurodegeneration and neurocognitive impairment in MPS II mice
  Morimoto H, et al. Mol Ther. 2021 May 5;29(5):1853-1861. doi: 10.1016/j.ymthe.2021.01.027.
• Nonclinical safety evaluation of pabinafusp alfa, an anti-human transferrin receptor antibody and iduronate-2-sulfatase fusion protein, for the treatment of neuronopathic mucopolysaccharidosis type II
  Yamamoto R, et al. Mol Genet Metab Rep. 2021 Apr 18;27:100758. doi: 10.1016/j.ymgmr.2021.100758.
• A Phase 2/3 Trial of Pabinafusp Alfa, IDS Fused with Anti-Human Transferrin Receptor Antibody, Targeting Neurodegeneration in MPS-II
  Okuyama T, et al. Mol Ther. 2021 Feb 3;29(2):671-679. doi: 10.1016/j.ymthe.2020.09.039.
• Novel Enzyme Replacement Therapies for Neuropathic Mucopolysaccharidose
  Sato Y, et al. Int J Mol Sci. 2020 Jan 8;21(2):400. doi: 10.3390/ijms21020400.
• Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 Trial
  Okuyama T, et al. Mol Ther. 2019 Feb 6;27(2):456-464. doi: 10.1016/j.ymthe.2018.12.005.
• Evaluation of cerebrospinal fluid heparan sulfate as a biomarker of neuropathology in a murine model of mucopolysaccharidosis type II using high-sensitivity LC/MS/MS
  Tanaka N, et al. Mol Genet Metab. 2018 Sep;125(1-2):53-58. doi: 10.1016/j.ymgme.2018.07.013.
• A Blood-Brain-Barrier-Penetrating Anti-human Transferrin Receptor Antibody Fusion Protein for Neuronopathic Mucopolysaccharidosis II
  Sonoda H, et al. Mol Ther. 2018 May 2;26(5):1366-1374. doi: 10.1016/j.ymthe.2018.02.032.

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神経セロイドリポフスチン症

• Treatment of CLN1 disease with a blood-brain barrier penetrating lysosomal enzyme
  Hahn A, et al. Mol Genet Metab Rep. 2022 Oct 26;33:100930. doi: 10.1016/j.ymgmr.2022.100930.

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ファブリー病

• Pharmacokinetics and pharmacodynamics of JR-051, a biosimilar of agalsidase beta, in healthy adults and patients with Fabry disease: Phase I and II/III clinical studies
  Nakamura K, et al. Mol Genet Metab. 2020 Jul;130(3):215-224. doi: 10.1016/j.ymgme.2020.04.003.
• Non-clinical evaluation of JR-051 as a biosimilar to agalsidase beta for the treatment of Fabry disease
  Morimoto H, et al. Mol Genet Metab. 2018 Sep;125(1-2):153-160. doi: 10.1016/j.ymgme.2018.07.009.

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成長ホルモン

• Efficacy and safety of GH treatment in Japanese children with short stature due to SHOX deficiency: a randomized phase 3 study
  Ogata T, et al. Clin Pediatr Endocrinol. 2024;33(2):43-49. doi: 10.1297/cpe.2023-0070.
• Growth Hormone Injection Log Analysis with Electronic Injection Device for Qualifying Adherence to Low-Irritant Formulation and Exploring Influential Factors on Adherence
  Takasawa K, et al. Patient Prefer Adherence. 2023 Aug 1;17:1885-1894. doi: 10.2147/PPA.S417142.
• Pharmacokinetics and pharmacodynamics of once-weekly administration of JR-142, a long-acting albumin-fused human growth hormone: A rondemized, placebo-controlled phase 1 study
  Owada Y, et al. Growth Horm IGF Res. 2022 Dec;67:101500. doi: 10.1016/j.ghir.2022.101500.
• Effectiveness of a smartphone application on medication adherence in children with short stature receiving GH therapy: A multicenter prospective cohort study (GTL-App)
  Urakami T. Clin Pediatr Endocrinol. 2021;30(2):85-92. doi: 10.1297/cpe.30.85.
• Newly formulated GROWJECT® is bioequivalent to the prior GROWJECT® formulation and causes less injection-associated pain
  Owada Y, et al. Clin Pediatr Endocrinol. 2021;30(1):35-40. doi: 10.1297/cpe.30.35.
• Efficacy and safety of growth hormone treatment in Japanese children with small-for-gestational-age short stature in accordance with Japanese guidelines
  Yokoya S, et al. Clin Pediatr Endocrinol. 2018;27(4):225-234. doi: 10.1297/cpe.27.225.
• Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan
  Tanaka T, et al. Clin Pediatr Endocrinol. 2015 Oct;24(4):167-73. doi: 10.1297/cpe.24.167.

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細胞治療

• Combined treatment with mesenchymal stem cells and therapeutic hypothermia for neonatal hypoxic ischemic encephalopathy: a phase 1/2 randomized trial
  Wada K, et al. Sci Rep. 2025 May 10;15(1):16302. doi: 10.1038/s41598-025-98504-z.
• Bone marrow-derived mesenchymal stem cells (JR-031) for steroid-refractory grade III or IV acute graft-versus-host disease: a phase II/III study
  Muroi K, et al. Int J Hematol. 2016 Feb;103(2):243-50. doi: 10.1007/s12185-015-1915-9.
• Unrelated allogeneic bone marrow-derived mesenchymal stem cells for steroid-refractory acute graft-versus-host disease: a phase I/II study
  Muroi K, et al. Int J Hematol. 2013 Aug;98(2):206-13. doi: 10.1007/s12185-013-1399-4.

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腎性貧血

• Long-Term Safety and Efficacy of JR-131, a Biosimilar of Darbepoetin Alfa, in Japanese Patients With Renal Anemia Undergoing Hemodialysis: Phase 3 Prospective Study
  Nishi S, et al. Ther Apher Dial. 2020 Apr;24(2):136-145. doi: 10.1111/1744-9987.13420.
• JR-131, a Biosimilar of Darbepoetin Alfa, for the Treatment of Hemodialysis Patients With Renal Anemia: A Randomized, Double-Blinded, Parallel-Group Phase 3 Study
  Nishi S, et al. Ther Apher Dial. 2020 Apr;24(2):126-135. doi: 10.1111/1744-9987.13422.
• Physicochemical and biological evaluation of JR-131 as a biosimilar to a long-acting erythropoiesis-stimulating agent darbepoetin alfa
  Tani J, et al. PLoS One. 2020 Apr 17;15(4):e0231830. doi: 10.1371/journal.pone.0231830.

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