Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3.

Autor:	Lee NC; Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan., Chien YH; Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan., Wang CH; Division of Genetics and Metabolism, Children's Hospital of China Medical University, Taichung, Taiwan.; School of Medicine, China Medical University, Taichung, Taiwan., Wong SL; Department of Pediatrics, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chia-Yi, Taiwan., Peng SS; Department of Radiology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan., Tsai FJ; Department of Medical Genetics, Children's Hospital, China Medical University, Taichung, Taiwan.; School of Medicine, China Medical University, Taichung, Taiwan., Hwu WL; Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Jazyk:	angličtina
Zdroj:	Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2022 Apr 19; Vol. 31, pp. 100867. Date of Electronic Publication: 2022 Apr 19 (Print Publication: 2022).
DOI:	10.1016/j.ymgmr.2022.100867
Abstrakt:	Patients with Gaucher disease type 3 (GD3), especially those with GBA p.L444P homozygous mutation, often suffer from complications including lymphadenopathy even under regular enzyme replacement therapy (ERT). In order to improve their outcome, we administrated eliglustat, a substrate reduction therapy (SRT), in combination with ERT to four patients, age ranged 9-18 years, for two years. The results revealed that patients' plasma glucosylsphingosine (lyso-GL1) level and chitotriosidase activity both decreased after adding eliglustat. In three patients who completed follow-up MRI scanning, sizes of lymph nodes all decreased. No severe adverse events were attributed to eliglustat. Therefore, our data suggest that a combined SRT and ERT treatment may improve the ERT-resistant symptoms in patients with GD3. Competing Interests: Ni-Chung Lee received grant from Sanofi-Genzyme for this investigator-sponsored study. (© 2022 The Authors.)
Databáze:	MEDLINE
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