期刊
MOLECULAR GENETICS AND METABOLISM REPORTS
卷 31, 期 -, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.ymgmr.2022.100867
关键词
Gaucher disease; Eliglustat; Substrate reduction therapy
资金
- Sanofi-Genzyme [GZ-2016-11668]
Adding eliglustat to enzyme replacement therapy (ERT) improved the symptoms and reduced the size of lymph nodes in GD3 patients resistant to ERT, without severe adverse events.
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.
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