| Project/Area Number |
18K15685
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| Research Category |
Grant-in-Aid for Early-Career Scientists
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| Allocation Type | Multi-year Fund |
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| Review Section |
Basic Section 52050:Embryonic medicine and pediatrics-related
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| Research Institution | Jichi Medical University |
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Principal Investigator |
Kojima Karin 自治医科大学, 医学部, 准教授 (00468331)
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| Project Period (FY) |
2018-04-01 – 2024-03-31
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| Project Status |
Completed (Fiscal Year 2023)
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| Budget Amount *help |
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2020: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2019: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2018: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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| Keywords | AADC欠損症 / 遺伝子治療 / AAV / スクリーニング / Rett症候群 / MECP2 / AAVベクター / 小児神経 / 大脳皮質オルガノイド / iPS / Gaucher病 |
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| Outline of Final Research Achievements |
We have been conducting a clinical study since 2015 on gene therapy for AADC deficiency, in which AAV2 vector was injected into both sides of the putamen via stereotactic brain surgery. All patients who received the gene therapy showed improvement in motor function. The long-term effects of the treatment were analyzed using MRI imaging, motor function assessments, and cognitive function evaluations. Early diagnosis and treatment are crucial, and we conducted a pilot study to establish a screening test for AADC deficiency.
Many pediatric neurological disorders are caused by genetic variants. Alongside molecular genetic analysis of undiagnosed cases, we have been developing gene therapy using AAV for Rett syndrome and MECP2 duplication syndrome.
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| Academic Significance and Societal Importance of the Research Achievements |
遺伝子異常による神経疾患治療に神経移行の良いAAVを用いた遺伝子治療は根本治療として期待されている。AADC欠損症の遺伝子治療により、ベクター注入した被殻でのAADC発現が長期に確認でき、運動機能・認知機能の改善が持続している知見は今後の遺伝子治療開発にも重要な知見である。Rett症候群・MECP2重複症候群の遺伝子治療の開発は世界的に期待されている。
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