{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T18:58:28Z","timestamp":1777489108564,"version":"3.51.4"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2025,9,9]],"date-time":"2025-09-09T00:00:00Z","timestamp":1757376000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,9,9]],"date-time":"2025-09-09T00:00:00Z","timestamp":1757376000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Universit\u00e9 d'Angers"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Metabolomics"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>The definition of Leber's hereditary optic neuropathy (LHON) does not take into account a preclinical phase during which the thickness of retinal nerve fiber layer (RNFL) is increased, prior to optic nerve atrophy, reducing the chances of visual recovery.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Search for a metabolomic signature characterizing this preclinical phase and identify biomarkers predicting the risk of LHON onset.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and results<\/jats:title>\n                    <jats:p>The blood and tear metabolomic profiles of 90 asymptomatic LHON mutation carriers followed for one year will be explored as a function of RNFL thickness and compared to those of a healthy control.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Identifying pre-clinical biomarkers would open a window for clinical trials.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s11306-025-02328-x","type":"journal-article","created":{"date-parts":[[2025,9,9]],"date-time":"2025-09-09T10:44:40Z","timestamp":1757414680000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["MetabOCT: a clinical trial looking for a metabolomic signature predicting the onset of Leber\u2019s hereditary optic neuropathy in healthy MtDNA mutations carriers"],"prefix":"10.1007","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2585-2114","authenticated-orcid":false,"given":"Christophe","family":"Orssaud","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pascal","family":"Reynier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,9,9]]},"reference":[{"issue":"6","key":"2328_CR20","doi-asserted-by":"publisher","first-page":"985","DOI":"10.5301\/ejo.5000154","volume":"22","author":"P Barboni","year":"2012","unstructured":"Barboni, P., Savini, G., Feuer, W. J., Budenz, D. L., Carbonelli, M., Chicani, F., et al. (2012). Retinal nerve fiber layer thickness variability in leber hereditary optic neuropathy carriers. European Journal of Ophthalmology, 22(6), 985\u2013991.","journal-title":"European Journal of Ophthalmology"},{"issue":"3","key":"2328_CR9","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1097\/WNO.0000000000001367","volume":"41","author":"V Biousse","year":"2021","unstructured":"Biousse, V., Newman, N. J., Yu-Wai-Man, P., Carelli, V., Moster, M. L., Vignal-Clermont, C., et al. (2021). Long-Term Follow-Up after unilateral intravitreal gene therapy for leber hereditary optic neuropathy: The RESTORE study. Journal of Neuro-Ophthalmology, 41(3), 309\u2013315.","journal-title":"Journal of Neuro-Ophthalmology"},{"issue":"1","key":"2328_CR17","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1167\/iovs.17-23027","volume":"59","author":"C Bocca","year":"2018","unstructured":"Bocca, C., Kouassi Nzoughet, J., Leruez, S., Amati-Bonneau, P., Ferr\u00e9, M., Kane, M-S., et al. (2018). A plasma metabolomic signature involving purine metabolism in human optic atrophy 1 (OPA1)-Related disorders. Invest Ophthalmol Vis Sci, 59(1), 185\u2013195.","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"1","key":"2328_CR16","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1093\/hmg\/ddab013","volume":"30","author":"C Bocca","year":"2021","unstructured":"Bocca, C., Le Paih, V., Chao de la Barca, J. M., Kouassy Nzoughet, J., Amati-Bonneau, P., Blanchet, O., et al. (2021). A plasma metabolomic signature of leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies. Human Molecular Genetics, 30(1), 21\u201329.","journal-title":"Human Molecular Genetics"},{"issue":"4","key":"2328_CR1","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1097\/WNO.0000000000000570","volume":"37","author":"V Carelli","year":"2017","unstructured":"Carelli, V., Carbonelli, M., de Coo, I. F., Kawasaki, A., Klopstock, T., Lagr\u00e8ze, W. A., et al. (2017). International consensus statement on the clinical and therapeutic management of leber hereditary optic neuropathy. Journal of Neuro-Ophthalmology, 37(4), 371\u2013381.","journal-title":"Journal of Neuro-Ophthalmology"},{"issue":"12","key":"2328_CR8","doi-asserted-by":"publisher","first-page":"881","DOI":"10.1007\/s11910-022-01246-y","volume":"22","author":"BS Chen","year":"2022","unstructured":"Chen, B. S., Yu-Wai-Man, P., & Newman, N. J. (2022). Developments in the treatment of leber hereditary optic neuropathy. 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PR had none.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"All procedures performed in studies involving human participants will be in accordance with the ethical standards of the institutional and\/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Informed consent will be obtained from all participants included in the study.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}],"article-number":"134"}}