Establishment of an intercontinental cohort database for ABCA4-associated retinal disorder, aiming for clinical trial of treatment
| Project/Area Number |
16H06269
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| Research Category |
Grant-in-Aid for Young Scientists (A)
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| Allocation Type | Single-year Grants |
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| Research Field |
Ophthalmology
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| Research Institution | 独立行政法人国立病院機構(東京医療センター臨床研究センター) |
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Principal Investigator |
Fujinami Kaoru 独立行政法人国立病院機構(東京医療センター臨床研究センター), 視覚研究部 視覚生理学研究室, 室長 (60646206)
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| Research Collaborator |
TSUNODA Kazushige
IWATA Takeshi
MIYAKE Yozo
MICHAELIDSE Michel
WEBSTER Andrew
ARNO Gavin
PONTIKOS Nikolas
SERGONIOTIS Panagiotis
SCHOLL Hendrik
WEST Siela
KAHN Kamron
BERNSTEIN Paul
BIRCH David
BOMOTTI Samantha
CIDECYAN Artur
TRABOUSLI Elias
ZRENNER Eberhart
SERGEEV Yuri
ALLIKMETS Rando
SUI Ruifang
LI Shiying
LEI Bo
ZHANG Qingjiong
YANG Lizhu
FUJINAMI Yu (YOKOKAWA Yu)
LIU Xiao
WOO Se joon
JOO Kwangik
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| Project Period (FY) |
2016-04-01 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥24,310,000 (Direct Cost: ¥18,700,000、Indirect Cost: ¥5,610,000)
Fiscal Year 2018: ¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000)
Fiscal Year 2017: ¥8,190,000 (Direct Cost: ¥6,300,000、Indirect Cost: ¥1,890,000)
Fiscal Year 2016: ¥13,000,000 (Direct Cost: ¥10,000,000、Indirect Cost: ¥3,000,000)
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| Keywords | 眼遺伝学 / kk / 遺伝学 |
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| Outline of Final Research Achievements |
This study aims to develop an international database of ABCA4-associated retinal disorders under collaboration among National Tokyo Medical Center (Japan), UCL Institute of Ophthalmology (UK), and National Institute of Health and ProgStar project (USA). There are 7 steps; 1) clinical diagnosis and patient recruitment; 2)comprehensive genetic screening; 3) establish an international cohort on database; 4) calculation of impact scores for each variant; 5) genotype-phenotype correlation/association analysis; 6) comparison of allele frequency of prevalent variants among cohorts; 7) development of therapeutic trials. 518 subjects were ascertained in total; 155 (Japan), 190 (UK), and 193 (USA). Statistically significant difference of allele frequency of prevalent variants was revealed among the nations and therapeutic trials have been initiated with utilizing this international database.
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| Academic Significance and Societal Importance of the Research Achievements |
本研究において構築された、遺伝性希少疾患における画一的診断基準に基づいた国境・民族を超えたデータベース・コホート作成は極めてインパクトの大きいものであった。各国における高頻度変異の差異が同定され、本研究で得られた変異インパクトスコアは500症例を超える大コホートにおける遺伝子型・表現型関連構築に極めて有用であった。本研究で構築された国際データベースはグローバル化・個別化が進む医療形態への架け橋として極めて重要であり、治験導入が実現された事で、強固な国際連携下における遺伝性網膜疾患の治療新時代が開拓される事が期待される。
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Report
(4 results)
Research Products
(122 results)
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[Journal Article] High-Resolution Retinal Imaging Reveals Preserved Cone Photoreceptor Density and Choroidal Thickness in Female Carriers of Choroideremia.2019
Author(s)
Suzuki K, Gocho K, Akeo K, Kikuchi S, Kubota D, Katagiri S, Fujinami K, Tsunoda K, Iwata T, Yamaki K, Igarashi T, Nakano T, Takahashi H, Hayashi T, Kameya S.
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Journal Title
Ophthalmic Surg Lasers Imaging Retina.
Volume: 50(2)
Issue: 2
Pages: 76-85
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.2018
Author(s)
Khan KN, Kasilian M, Mahroo OAR, Tanna P, Kalitzeos A, Robson AG, Tsunoda K, Iwata T, Moore AT, Fujinami K, Michaelides M.
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Journal Title
Ophthalmology
Volume: 125(5)
Issue: 5
Pages: 735-746
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar Study report #82018
Author(s)
Fujinami K, Strauss RW, Chiang J (Pei-Wen), Audo I, Bernstein PS, Birch DG, Bomotti SM, Cideciyan AV, Ervin AV, Marino MJ, Sahel JA, Mohand-Said S, Sunness JS, Traboulsi EI, West S, Wojciechowski R, Zrenner E, Michaelides M, Scholl HP
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Journal Title
Br J Ophthalmol
Volume: 印刷中
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Visual Acuity Change over 24 months in the Prospective Cohort of the Progression of Stargardt Disease (ProgStar) Study (ProgStar Report No 10)2018
Author(s)
Xiangrong K, Fujinami K, Strauss RW, Munoz B, West S, Cideciyan AV, Michaelides M, Ahmed M, Ervin AV, Schonbach E, Cheetham J, Scholl HP
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Journal Title
Jama Ophthalmol
Volume: 印刷中
Related Report
Peer Reviewed / Int'l Joint Research
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[Journal Article] Novel RP1L1 variants and genotype-photoreceptor microstructural phenotype associations in cohort of Japanese patients with occult macular dystrophy.2016
Author(s)
Fujinami K, Kameya S, Kikuchi S, Ueno S, Kondo M, Hayashi T, Shinoda K, Machida S, Kuniyoshi K, Kawamura Y, Akahori M, Yoshitake K, Katagiri S, Nakanishi A, Sakuramoto H, Ozawa Y, Tsubota K, Yamaki K, Mizota A, Terasaki H, Miyake Y, Iwata T, Tsunoda K.
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Journal Title
Invest Ophthalmol Vis Sci.
Volume: 57
Issue: 11
Pages: 4837-4846
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Clinical and genetic findings of autosomal recessive bestrophinopathy in Japanese cohort.2016
Author(s)
Nakanishi A, Ueno S, Hayashi T, Katagiri S, Kominami T, Ito Y, Gekka T, Masuda Y, Tsuneoka H, Shinoda K, Hirakata A, Inoue M, Fujinami K, Tsunoda K, Iwata T, Terasaki H.
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Journal Title
Am J Ophthalmol.
Volume: 168
Pages: 86-94
DOI
NAID
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Presentation] clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake’s disease); EAOMD Report No.1.2018
Author(s)
Fujinami K, Yang L, Joo K, Tsunoda K, Kawamura Y, Fujinami (Yokokawa) Y, Arno G, Kurihara T, Tsubota K, Zou X, Li H, Park KH, Iwata T, Miyake Y, Woo SJ, Sui R
Organizer
The Association for Research in Vision and Ophthalmology (ARVO) 2018 Conference.
Related Report
Int'l Joint Research
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[Presentation] Multimodal Imaging of East Asian Patients with Occult Macular Dystrophy (Miyake’s disease) EAOMD Report No. 3.2018
Author(s)
Joo K, Yang L, Tsunoda K, Kondo M, Fujinami (Yokokawa) Y, Arno G, Kurihara T, Tsubota K, Iwata T, Zou X, Li H, Miyake Y, Park KH, Fujinami K, Sui R, Woo SJ.
Organizer
The Association for Research in Vision and Ophthalmology (ARVO) 2018 Conference.
Related Report
Int'l Joint Research
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[Presentation] Genotype Phenotype Association in East Asian Patients with Occult Macular Dystrophy (Miyake’s disease); EAOMD Report No.4.2018
Author(s)
Fujinami (Yokokawa) Y, Yang L, Joo K, Tsunoda K, Kondo M, Arno G, Liu X, Tsubota K, Iwata T, Zou X, Li H, Park KH, Miyake Y, Woo SJ, Sui R, Fujinami K.
Organizer
The Association for Research in Vision and Ophthalmology (ARVO) 2018 Conference.
Related Report
Int'l Joint Research
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[Presentation] Clinical and Genetic Characteristics of East Asian Patients with Stargardt disease; EAStar Report No.1.2018
Author(s)
Fujinami K, Liu X, Joo K, Tsunoda K, Hayashi T, Shinoda K, Mizota A, Kondo M, Kuniyoshi K, Fujinami (Yokokawa) Y, Yang L, Arno G, Kurihara T, Tsubota K, Miyake Y, Li Y, Park KH, Ma DJ, Yu HG, Lei B, Iwata T, Woo SJ, Li S.
Organizer
The 56th Annual Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV)
Related Report
Int'l Joint Research
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[Presentation] Distribution of generalized functional phenotype of East Asian Patients with Stargardt Disease (STGD1): EAStar studies report 2.2018
Author(s)
Liu X, Yang L, Joo K, Tsunoda K, Hayashi T, Shinoda K, Mizota A, Kondo M, Kuniyoshi K, Fujinami (Yokokawa) Y, Arno G, Kurihara T, Tsubota K, Miyake Y, Li Y, Park KH, Ma DJ, Yu HG, Lei B, Iwata T, Woo SJ, Li S, Fujinami K.
Organizer
The 56th Annual Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV)
Related Report
Int'l Joint Research
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[Presentation] Full-field Electroretinograms Features of East Asian Patients with Occult Macular Dystrophy (Miyake’s disease); EAOMD Report No.2.1.2018
Author(s)
Yang L, Joo K, Tsunoda K, Mineo K, Fujinami (Yokokawa) Y, Arno G, Kurihara T, Tsubota K, Iwata T, Zou X, Li H, Park KH, Miyake Y, Woo SJ, Sui R, Fujinami K.
Organizer
The 56th Annual Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV)
Related Report
Int'l Joint Research
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[Presentation] Genotype Phenotype Association in East Asian Patients with Occult Macular Dystrophy (Miyake’s disease); EAOMD Report No.4.2018
Author(s)
Fujinami (Yokokawa) Y, Yang L, Joo K, Tsunoda K, Kondo M, Arno G, Liu X, Kuriahra T, Tsubota K, Zou X, Li H, Park KH, Miyake Y, Iwata T, Woo SJ, Sui R, Fujinami K.
Organizer
The 56th Annual Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV)
Related Report
Int'l Joint Research
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[Presentation] Genetic characteristics of an international large cohort with Stargardt disease: The ProgStar study.2017
Author(s)
Fujinami K, Strauss RW, Chiang J, Audo I, Bernstein PS, Birch DG, Jacobson SG, Mansfield BC, Marino MJ, Sahel JA, Mohand-Said S, Sunness JS, Traboulsi EI, Zrenner E, Michaelides M, Scholl HP.
Organizer
The Association for Research in Vision and Ophthalmology 2017 conference
Related Report
Int'l Joint Research
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[Presentation] Mutations in the X-linked gene PRPS1 cause retinal degeneration in females2017
Author(s)
Fiorentino A, Arno G, Pontikos N, Fujinami K, Hayashi T, Plagnol V, Cheetham ME, Iwata T, Webster AR, Michaelides M, Hardcastle AJ.
Organizer
The Association for Research in Vision and Ophthalmology 2017 conference
Related Report
Int'l Joint Research
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[Presentation] The majority of persons with ABCA4 disease-associated genotypes do not present with visual disability.2017
Author(s)
Fakin A, Lambertus S, Cipriana V, Arno G, Bax N, Chiang J, Fujinami K, Moore AT, Carss K, Raymond L, Michaelides M, Hoyng CC, Webster AR.
Organizer
The 20th International Society for Genetic Eye Diseases and Retinoblastoma
Related Report
Int'l Joint Research
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[Presentation] Genetic characteristics of an international large cohort with Stargardt disease: the progression of atrophy secondary to Stargardt disease (ProgStar) study.2017
Author(s)
Fujinami K, Strauss RW, Chiang J, Audo I, Bernstein PS, Birch DG, Jacobson SG, Mansfield BC, Marino MJ, Sahel JA, Mohand-Said S, Sunness JS, Traboulsi EI, Zrenner E, Michaelides M, Scholl HP.
Organizer
The American Society of Human Genetics 2017 Annual Meeting
Related Report
Int'l Joint Research
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[Presentation] Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake’s disease); EAOMD Report No.1.2017
Author(s)
Fujinami K, Yang L, Joo K, Tsunoda K, Kawamura Y, Fujinami (Yokokawa) Y, Arno G, Kurihara T, Tsubota K, Zou X, Li H, Park KH, Miyake Y, Iwata T, Woo SJ, Sui R.
Organizer
The 55th Annual Symposium of the International Society for Clinical Electrophysiology of Vision
Related Report
Int'l Joint Research
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[Presentation] Functional Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake's Disease); EAOMD Report No. 2.2017
Author(s)
Yang L, Joo K, Tsunoda K, Kondo M, Fujinami (Yokokawa) Y, Arno G, Kurihara T, Tsubota K, Iwata T, Zou X, Li H, Park KH, Miyake Y, Woo SJ, Sui R, Fujinami K.
Organizer
The 55th Annual Symposium of the International Society for Clinical Electrophysiology of Vision
Related Report
Int'l Joint Research
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[Presentation] Clinical and Genetic Characteristics of Occult Macular Dystrophy in East Asia2017
Author(s)
藤波 芳, Lizhu Yang, Kwangsic Joo, Xuan Zou, Hui Li, Kyu Hyung Park, 栗原俊英, 坪田一男, 岩田岳, 三宅養三, 角田和繁, Se Joon Woo, Ruifang Sui.
Organizer
第56回日本網膜硝子体学会総会
Related Report
Invited
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[Presentation] POC1B網膜症における表現型スペクトラム：眼底正常な錐体ジストロフィ2017
Author(s)
藤波芳, 亀谷修平, 菊地佐知子, 林孝彰, 片桐聡, 上野真治, 小南梓, 出田隆一, 三宅養三, 岩田岳, 角田和繁
Organizer
第65回日本臨床視覚電気生理学会
Related Report
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[Presentation] Japan Occult Macular Dystrophy Project: Association of Genotype and Photoreceptor Architecture2016
Author(s)
Fujinami K,Kameya S, Ueno S, Kondo M, Hayashi T, Shinoda K, Machida S, Miyake Y, Iwata T, Tsunoda K.
Organizer
The Association for Research in Vision and Ophthalmology annual meeting 2016
Place of Presentation
Seattle, WA, USA
Related Report
Int'l Joint Research
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[Presentation] In-silico unfolding: a role of missense changes in Stargardt’s disease.2016
Author(s)
Segreev Y, McCafferty C, Fujinami K, Falsini B, Zein WM, Jayasundera KT, Michaelides M, Brooks BP, Sieving PA.
Organizer
The Association for Research in Vision and Ophthalmology annual meeting 2016
Place of Presentation
Seattle, WA, USA
Related Report
Int'l Joint Research
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[Presentation] Novel pathogenic RP1L1 variants and genotype-photoreceptor microstructural phenotype associations in cohort of Japanese patients with occult macular dystrophy.2016
Author(s)
Fujinami K, Kameya S, Kikuchi S, Ueno S, Kondo M, Hayashi T, Shinoda K, Machida S, Kuniyoshi K, Kawamura Y, Akahori M, Yoshitake K, Katagiri S, Nakanishi A, Sakuramoto H, Ozawa Y, Tsubota K, Yamaki K, Mizota A, Terasaki H, Miyake Y, Iwata T, Tsunoda K.
Organizer
International Society for Clinical Electrophysiology of Vision symposium 2016
Place of Presentation
Singapore
Related Report
Int'l Joint Research
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