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Folic acid for Inherited GPI deficiency

Research Project

Project/Area Number 18K07820
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Review Section Basic Section 52050:Embryonic medicine and pediatrics-related
Research InstitutionOsaka University

Principal Investigator

TOMINAGA Koji  大阪大学, 大学院連合小児発達学研究科, 招へい教員 (20599245)

Co-Investigator(Kenkyū-buntansha) 青天目 信  大阪大学, 大学院医学系研究科, 講師 (30570072)
岩谷 祥子  大阪大学, 大学院連合小児発達学研究科, 助教 (60724903)
Project Period (FY) 2018-04-01 – 2024-03-31
Project Status Completed (Fiscal Year 2023)
Budget Amount *help
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2020: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2019: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2018: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Keywords先天性GPI欠損症 / 活性化葉酸 / てんかん / 知的障害 / 高ALP血症 / 先天性 / 先天性GPIアンカー欠損症 / 知的障碍 / 活性型葉酸
Outline of Final Research Achievements

Folic acid was administered to two new cases (PIGO). In accordance with the protocol, the treatment began after pre-start blood tests, cerebrospinal fluid tests (5-methyltetrahydrofolate(:5-MTHF) level), and electroencephalogram tests (evaluation of background activity and abnormal epileptic discharges), and the scheduled administration period was completed. The therapeutic effects are evaluated by clinical symptoms (epileptic seizures, and motor/mental development), blood tests (improvement of hyperalpemia, another side effects), cerebrospinal fluid tests (improvement of low 5-MTHF level), Brain MRI (hyperintensity of basal ganglia, cerebellar atrophy) and electroencephalography were evaluated. One patient showed a significant decrease in seizure frequency and improvement in epileptic discharges of electroencephalogram.

Academic Significance and Societal Importance of the Research Achievements

先天性GPI欠損症は希少疾患であり現在も有効な治療法が確立されていない。本疾患では葉酸受容体(FOLR1)の機能は正常であるが、脈絡叢表面のGPIアンカー型蛋白質の機能低下により髄液内の葉酸が欠乏していると推定でき実際に5-MTHFの低値を認める症例がある。その病態より活性化葉酸を投与することで本疾患の中枢神経症状(てんかん、知的障害)を緩和する可能性のある活性化葉酸の有効性を検討することは、患者本人やその家族の希望となる。

Report

(7 results)
  • 2023 Annual Research Report   Final Research Report ( PDF )
  • 2022 Research-status Report
  • 2021 Research-status Report
  • 2020 Research-status Report
  • 2019 Research-status Report
  • 2018 Research-status Report
  • Research Products

    (5 results)

All 2021 2019 Other

All Journal Article (1 results) (of which Peer Reviewed: 1 results,  Open Access: 1 results) Presentation (2 results) (of which Invited: 1 results) Remarks (2 results)

  • [Journal Article] High-dose pyridoxine treatment for inherited glycosylphosphatidylinositol deficiency2021

    • Author(s)
      Tanigawa J, Nabatame S, Tominaga K, Nishimura Y, Maegaki Y, Kinosita T, Murakami Y, Ozono K
    • Journal Title

      Brain & Development

      Volume: 43 Issue: 6 Pages: 680-687

    • DOI

      10.1016/j.braindev.2021.02.007

    • Related Report
      2020 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] 先天性glycosylphosphatidylinositol(GPI)欠損症に対するピリドキシン大量療法2021

    • Author(s)
      谷河 純平, 青天目 信, 富永 康仁, 西村 洋子, 前垣 義弘, 木下 タロウ, 村上 良子, 大薗 恵一
    • Organizer
      日本小児神経学会
    • Related Report
      2021 Research-status Report
  • [Presentation] 先天性GPI欠損症2019

    • Author(s)
      青天目信
    • Organizer
      日本てんかん学会
    • Related Report
      2019 Research-status Report
    • Invited
  • [Remarks] 先天性GPI欠損症(IGD)

    • Related Report
      2019 Research-status Report
  • [Remarks] 先天性GPI欠損症

    • URL

      http://igd.biken.osaka-u.ac.jp/

    • Related Report
      2018 Research-status Report

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Published: 2018-04-23   Modified: 2025-01-30  

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