|Title:||Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3||Authors:||NI-CHUNG LEE
Wang, Chung Hsing
Wong, Siew Lee
STEVEN SHINN-FORNG PENG
Tsai, Fuu Jen
|Keywords:||Eliglustat | Gaucher disease | Substrate reduction therapy||Issue Date:||1-Jun-2022||Journal Volume:||31||Source:||Molecular Genetics and Metabolism Reports||Abstract:||
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.
|Appears in Collections:||醫學院附設醫院 (臺大醫院)|
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