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One-year experience of oral substrate reduction therapy in three patients with Gaucher disease type I

Journal of Genetic Medicine 2020년 17권 2호 p.62 ~ 67
손영배, 김예원, 문지은,
소속 상세정보
손영배 ( Sohn Young-Bae ) - Ajou University School of Medicine Ajou University Hospital Department of Medical Genetics
김예원 ( Kim Ye-Won ) - Ajou University School of Medicine Ajou University Hospital Department of Medical Genetics
문지은 ( Moon Ji-Eun ) - Ajou University School of Medicine Ajou University Hospital Department of Medical Genetics

Abstract


Purpose: Eliglustat is an oral substrate reduction therapy (SRT) approved for adults with Gaucher disease type I (GD1) who are extensive, intermediate, or poor CYP2D6 metabolizers. Here we report one-year experience of eliglustat switch therapy from long-term enzyme replacement therapy (ERT) in three adult patients with GD1.

Materials and Methods: Medical history, clinical (hemoglobin concentration, platelet count, and bone mineral density) and biochemical parameters (angiotensin converting enzyme, total acid phosphatase, and lyso-gb1) of the patients were collected and evaluated by retrospective review of medical records at every 3, 6, or 12 month after switch to SRT.

Results: Patient 1 was a 43-year old female diagnosed GD1 and her clinical and biochemical parameters were stabilized for more than 20 years by ERT. Due to the burden of regular hospital visit, she switched to SRT. During one-year of SRT, clinical parameters and biomarkers were maintained stable. However, after suffering acute febrile illness during SRT, she decided to re-switch to ERT due to concerns about drug interaction. Patient 2 was 41-year old male, younger brother of patient 1 and Patient 3 was 31-year old male. They switched to SRT in clinically stable condition with long-term ERT. The one-year SRT was tolerable without specific safety issue and the clinical parameters were maintained stable.

Conclusion: One-year eliglustat therapy in three adult patients with GDI was generally tolerable and effective for maintaining the clinical parameters and biomarkers. However, the drug compliance, concurrent drug interactions, and long-term safety of eliglustat should be carefully monitored.

키워드

Gaucher disease; Drug therapy; Administration oral; Treatment outcome

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