Efficacy of Bezafibrate for severe form of glutaric acidemia type 2
Project/Area Number |
26870379
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Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Multi-year Fund |
Research Field |
Embryonic/Neonatal medicine
Pediatrics
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Research Institution | Shimane University |
Principal Investigator |
Yamada Kenji 島根大学, 医学部, 助教 (70624930)
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Project Period (FY) |
2014-04-01 – 2016-03-31
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Project Status |
Completed (Fiscal Year 2015)
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Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2015: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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Keywords | ベザフィブラート / 脂肪酸代謝異常症 / グルタル酸血症2型 / in vitro probe assay |
Outline of Final Research Achievements |
Bezafibrate (BEZ) was reported as a drug for mild form of fatty acid oxidation disorders, but was considered not effective for severe (neonatal-onset) form. In this study, we investigated the efficacy of BEZ for fibroblasts derived from various form of glutaric acidemia type 2 (GA2) using in vitro probe (IVP) assay. Low-dose BEZ was not effective for severest form of GA2 in which polycystic kidney, Potter's face, and severe cardiomyopathy was seen soon after birth. By contrast, low-dose BEZ was effective for neonatal-onset form without anomaly and cardiomyopathy. Moreover, good response to low-dose BEZ was observed in milder form which is onset after infancy. By the way, high-dose BEZ can not be evaluated using IVP assay due to precision of analysis BEZ may be clinically effective even for neonatal-onset form of GA2 if the patient has no anomaly and cardiomyopathy.
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Report
(3 results)
Research Products
(12 results)
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[Journal Article] Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases.2016
Author(s)
Yamada K, Kobayashi H, Bo R, Takahashi T, Purevsuren J, Hasegawa Y, Taketani T, Fukuda S, Ohkubo T, Yokota T, Watanabe M, Tsunemi T, Mizusawa H, Takuma H, Shioya A, Ishii A, Tamaoka A, Shigematsu Y, Sugie H, Yamaguchi S.
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Journal Title
Brain Dev.
Volume: 38
Issue: 3
Pages: 293-301
DOI
Related Report
Peer Reviewed
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[Presentation] VLCAD 欠損症合併妊娠の母児例2015
Author(s)
山田健治, 坊 亮輔, 小林弘典, 長谷川有紀, 河上早苗, 渡邊あさみ, 松原圭一, 山口清次
Organizer
第57回日本先天代謝異常学会
Place of Presentation
大阪(大阪国際会議場)
Year and Date
2015-11-12
Related Report
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