{"id":4054,"date":"2023-02-28T06:30:27","date_gmt":"2023-02-28T11:30:27","guid":{"rendered":"https:\/\/www.gensight-biologics.com\/journee-des-maladies-rares-2023-gensight-biologics-sensibilise-a-la-neuropathie-optique-hereditaire-de-leber-nohl\/"},"modified":"2026-09-24T00:06:58","modified_gmt":"2026-09-24T04:06:58","slug":"journee-des-maladies-rares-2023-gensight-biologics-sensibilise-a-la-neuropathie-optique-hereditaire-de-leber-nohl","status":"publish","type":"post","link":"https:\/\/www.gensight-biologics.com\/fr\/2023\/02\/28\/journee-des-maladies-rares-2023-gensight-biologics-sensibilise-a-la-neuropathie-optique-hereditaire-de-leber-nohl\/","title":{"rendered":"Journ\u00e9e des Maladies Rares 2023 : GenSight Biologics sensibilise \u00e0 la Neuropathie Optique H\u00e9r\u00e9ditaire de Leber (NOHL)"},"content":{"rendered":"\nParis, France, February 28, 2023, 7:30 am CET<\/strong> \u2013 GenSight Biologics (Euronext: SIGHT, ISIN: FR0013183985, PEA-PME eligible), a biopharma company focused on developing and commercializing innovative gene therapies for retinal neurodegenerative diseases and central nervous system disorders, highlights its commitment to fight rare neurodegenerative diseases by raising awareness of Leber Hereditary Optic Neuropathy (LHON) at Rare Disease Day through the launch of a European awareness campaign in Q1 2023, in close collaboration with LHON experts.\n\n \n\nRare Disease Day is a globally coordinated movement aiming to raise awareness for the 300 million people living with a rare disease worldwide. GenSight Biologics is pleased to join the movement and take this opportunity to raise awareness for LHON, a rare disease with significant unmet need.\n\n \n\nLeber Hereditary Optic Neuropathy (LHON): a rare, devastating disease that causes irreversible and severe vision loss, resulting in blindness<\/strong>\n\n \n\nLHON is a relatively unknown disease that strikes people in the prime of life. It is characterized by rapid,\nusually irreversible, painless, and severe vision loss1-4<\/sup>.\n\n \n\nThis condition is thought to affect from one out of 30,000 to one out of 50,000 people in Europe 1-3<\/sup><\/a>. Though women are also affected by the condition, LHON most often impacts young men2<\/sup>. Onset typically occurs between ages 15 and 35, but the disease has been observed in patients from 2 to 87 years of age 1<\/sup>.\n\n\u00a0<\/sup>\n\nPatients typically lose central vision in one eye and within a few weeks or months, vision begins to degrade in the second eye 5<\/sup>. Visual acuity eventually stabilizes at a very low visual acuity 1<\/sup>, the natural progression of the disease leads to legal blindness 6<\/sup>.\n\n \n\nPatients, caregivers and society as a whole bear the burden of LHON<\/strong>\n\n\u00a0<\/strong>\n\nPatients are affected physically but also socially and mentally7,8<\/sup>. The deterioration of central vision severely impedes the ability to carry out day-to-day activities such as reading, writing and cooking. Social interactions become more difficult, and individual pastimes become more challenging to pursue. For many patients, the loss of autonomy is an emotional blow. Taking a walk, become nearly impossible 7-9 <\/sup>for example. Patients also report feeling psychological impacts from the disease.\n\n \n\nIn an online survey, nearly 22% of LHON patients reported thoughts of suicide<\/strong> after experiencing bilateral vision loss 10<\/sup>.\n\n\u00a0<\/sup>\n\n\u201cI was told that I had LHON, that it was a genetic disease transmitted by the mother, that it was rare and that I would lose my sight in three months. Everything is slipping away: I won’t be able to drive, I won’t be able to see my wife’s face, I won’t be able to distinguish colors or what I eat\u201d.<\/em><\/strong> \u00a0<\/em><\/strong>LHON patient\n\n \n\nThough often forgotten, caregivers may also find themselves affected by LHON as well9<\/sup>. They might find their lives upended as a result of the demands of the disease, and caregivers report feeling compelled to put careers on hold or to reorganize their lives in order to accompany the patient day in and day out 9<\/sup>.\n\n\u00a0<\/sup>\n\n\u201cI\u2019ve needed to be part time really, to have the time and emotional energy to deal with things that suddenly crop up and paperwork and dealing with meetings and so on,\u201d <\/em><\/strong>parent of a LHON patient.\n\n \n\nLHON\u2019s impact is felt beyond the immediate social circle of the patient. <\/strong>Other costs associated with the condition include increased medical costs due to repeat hospital visits and health care administration, as well as the cost of low-vision aids, home-based care, and modifications to a patient\u2019s home 11<\/sup>.\n\n\u00a0<\/sup>\n\nEstimates of the annual productivity loss from legal blindness run to $411 billion8<\/sup>.\n\n\u00a0<\/strong>\n\nLack of awareness of LHON leads to misdiagnoses and imposes a psychological toll on patients and their families<\/strong>\n\n \n\nLHON, like many rare diseases, is often overlooked and diagnosis delayed because it can be confused with more well-known conditions like optic neuritis (multiple sclerosis) and retinopathy12,13<\/sup>. It is a psychological tool for the patients and their loved ones who are often sent to various physicians before to finally obtain a definitive diagnosis thanks to genetic testing. Interventions that support psychological health, reinforce coping mechanisms, and change illness perceptions are critical to patients with LHON 9<\/sup>. Additionally, intervention to educate patients on visual aid technologies may help improve their psychological well-being, and local patient groups and charities can also provide support to those with visual impairment 14,15<\/sup>.\n\n \n\nLaunch of an awareness campaign towards ophthalmologists and neurologists in Europe in close collaboration with LHON experts<\/strong>\n\n \n\nAs a healthcare company, GenSight has a responsibility that goes far beyond giving access to breakthrough solutions to patients. We are committed to actively support and help to improve the care of patients suffering from rare ophthalmic diseases, such as LHON. The Company has therefore developed, in close collaboration with LHON experts, \u00a0an awareness campaign to educate and increase the understanding of this devastating disease. The ultimate goal: accelerate time to diagnosis.\n\n \n\nThe campaign will be launched in the top 4 EU countries and UK in Q1 2023 by the GenSight local teams in the countries and is addressed to ophthalmologists and neurologists.\n\n \n\nAny person suspecting to be suffering from LHON should contact his health care professional and seek support from the local patient groups.\n\n \n\nReferences:<\/strong>\n\n\u00a0<\/strong>\n
    \n \t
  1. Newman NJ, Carelli V, Taiel M, Yu-Wai-Man P. Visual Outcomes in Leber Hereditary Optic Neuropathy Patients With the m.11778G>A (MTND4) Mitochondrial DNA Mutation.\u00a0J Neuroophthalmol. 2020;40(4):547-557.<\/li>\n \t
  2. . Sahel JA, Newman NJ, Yu-Wai-Man P, et al. Gene Therapies for the Treatment of Leber Hereditary Optic Neuropathy.\u00a0Int Ophthalmol Clin. 2021;61(4):195-208.<\/li>\n \t
  3. Sundaramurthy S, SelvaKumar A, Ching J, Dharani V, Sarangapani S, Yu-Wai-Man P. Leber hereditary optic neuropathy-new insights and old challenges.\u00a0Graefes Arch Clin Exp Ophthalmol. 2021;259(9):2461-2472.<\/li>\n \t
  4. Carelli V, Hawlina M, Klopstock T, Vignal-Clermont, Yu-Wai-Man P. Leber\u2019s Hereditary Optic Neuropathy \u2013 A Global Perspective. Eur Ophthalmic Rev. 2019;13(Suppl 2):Epub ahead of print.<\/li>\n \t
  5. 5<\/strong>. Atlas of LHON: Chapter 1 \u2013 Natural History. Available at: https:\/\/www.studiodazeglio.it\/libri\/atlas-of-lhon<\/a><\/li>\n \t
  6. Man PYW, Chinnery PF. Leber Hereditary Optic Neuropathy. In: Adam MP, Ardinger HH, Pagon RA, et al., eds.\u00a0GeneReviews<\/em>. Seattle (WA): University of Washington, Seattle; October 26, 2000.<\/li>\n \t
  7. Kirkman MA, Korsten A, Leonhardt M, et al. Quality of life in patients with leber hereditary optic neuropathy.\u00a0Invest Ophthalmol Vis Sci. <\/em>2009;50(7):3112-3115.<\/li>\n \t
  8. Burton MJ, Ramke J, Marques AP, et al. The Lancet Global Health Commission on Global Eye Health: vision beyond 2020.\u00a0Lancet Glob Health. 2021;9(4):e489-e551<\/li>\n \t
  9. Chen BS, Holzinger E, Taiel M, et al. The Impact of Leber Hereditary Optic Neuropathy on the Quality of Life of Patients and Their Relatives:A Qualitative Study. J Neuroophthalmol<\/em>. 2022;42(3):316-322.<\/li>\n \t
  10. Liu H, Gale J, Khoshenvis, M, et al. (2018, May 31 \u2013 June 3). Suicidal Ideation and psychological symptoms in bilateral vision loss. [Paper presentation] Canadian Ophthalmology Society Annual Meeting and Exhibition, Toronto, Ontario, CA. https:\/\/sites.grenadine.co\/sites\/cos-sco\/en\/toronto2018\/schedule\/617<\/a>.<\/li>\n \t
  11. Lafuma A, Br\u00e9zin A, Lopatriello S, et al. Evaluation of non-medical costs associated with visual impairment in four European countries: France, Italy, Germany and the UK.\u00a0Pharmacoeconomics. 2006;24(2):193-205.<\/li>\n \t
  12. Carelli V, Hawlina M, Klopstock T, Vignal-Clermont, Yu-Wai-Man P. Leber\u2019s Hereditary Optic Neuropathy \u2013 A Global Perspective. Eur Ophthalmic Rev<\/em>. 2019;13(Suppl 2):Epub ahead of print.<\/li>\n \t
  13. Carelli V, Carbonelli M, de Coo IF, et al. International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy.\u00a0J Neuroophthalmol<\/em>. 2017;37(4):371-381.<\/li>\n \t
  14. Hage R, Vignal-Clermont C. Leber Hereditary Optic Neuropathy: Review of Treatment and Management.\u00a0Front Neurol<\/em>. 2021;12:651639<\/li>\n \t
  15. LHON Community. https:\/\/www.lhon.org\/community. Accessed 31 October, 2022.<\/li>\n<\/ol>\n","protected":false},"excerpt":{"rendered":"
      \n
    • La neuropathie optique h\u00e9r\u00e9ditaire de Leber (NOHL) est une maladie rare qui touche principalement les personnes \u00e2g\u00e9es de 15 \u00e0 35 ans et qui entra\u00eene une perte de vision grave et irr\u00e9versible menant \u00e0 la c\u00e9cit\u00e9<\/li>\n
    • Les patients, les soignants et la soci\u00e9t\u00e9 dans son ensemble portent le fardeau de la NOHL<\/li>\n
    • La m\u00e9connaissance de la NOHL entra\u00eene des erreurs de diagnostic et impose un lourd fardeau psychologique aux patients et \u00e0 leurs familles<\/li>\n
    • Lancement d’une campagne europ\u00e9enne de sensibilisation \u00e0 la NOHL, en \u00e9troite collaboration avec les experts de la NOHL<\/li>\n<\/ul>\n","protected":false},"author":4,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":"","_links_to":"","_links_to_target":""},"categories":[54],"tags":[],"featured-area":[],"news-topic":[79],"news-type":[76],"post-year":[],"class_list":["post-4054","post","type-post","status-publish","format-standard","hentry","category-communiques-de-presse-financiers","news-topic-company-and-personnel","news-type-corporate"],"acf":[],"yoast_head":"\nJourn\u00e9e des Maladies Rares 2023 : GenSight Biologics sensibilise \u00e0 la Neuropathie Optique H\u00e9r\u00e9ditaire de Leber (NOHL) - GenSight Biologics<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.gensight-biologics.com\/fr\/2023\/02\/28\/journee-des-maladies-rares-2023-gensight-biologics-sensibilise-a-la-neuropathie-optique-hereditaire-de-leber-nohl\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Journ\u00e9e des Maladies Rares 2023 : GenSight Biologics sensibilise \u00e0 la Neuropathie Optique H\u00e9r\u00e9ditaire de Leber (NOHL) - GenSight Biologics\" \/>\n<meta property=\"og:description\" content=\"La neuropathie optique h\u00e9r\u00e9ditaire de Leber (NOHL) est une maladie rare qui touche principalement les personnes \u00e2g\u00e9es de 15 \u00e0 35 ans et qui entra\u00eene une perte de vision grave et irr\u00e9versible menant \u00e0 la c\u00e9cit\u00e9 Les patients, les soignants et la soci\u00e9t\u00e9 dans son ensemble portent le fardeau de la NOHL La m\u00e9connaissance de la NOHL entra\u00eene des erreurs de diagnostic et impose un lourd fardeau psychologique aux patients et \u00e0 leurs familles Lancement d'une campagne europ\u00e9enne de sensibilisation \u00e0 la NOHL, en \u00e9troite collaboration avec les experts de la NOHL\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.gensight-biologics.com\/fr\/2023\/02\/28\/journee-des-maladies-rares-2023-gensight-biologics-sensibilise-a-la-neuropathie-optique-hereditaire-de-leber-nohl\/\" \/>\n<meta property=\"og:site_name\" content=\"GenSight Biologics\" \/>\n<meta property=\"article:published_time\" content=\"2023-02-28T11:30:27+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-09-24T04:06:58+00:00\" \/>\n<meta name=\"author\" content=\"jbenedicto\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"\u00c9crit par\" \/>\n\t<meta name=\"twitter:data1\" content=\"jbenedicto\" \/>\n\t<meta name=\"twitter:label2\" content=\"Dur\u00e9e de lecture estim\u00e9e\" \/>\n\t<meta name=\"twitter:data2\" content=\"6 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/www.gensight-biologics.com\\\/fr\\\/2023\\\/02\\\/28\\\/journee-des-maladies-rares-2023-gensight-biologics-sensibilise-a-la-neuropathie-optique-hereditaire-de-leber-nohl\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/www.gensight-biologics.com\\\/fr\\\/2023\\\/02\\\/28\\\/journee-des-maladies-rares-2023-gensight-biologics-sensibilise-a-la-neuropathie-optique-hereditaire-de-leber-nohl\\\/\"},\"author\":{\"name\":\"jbenedicto\",\"@id\":\"https:\\\/\\\/www.gensight-biologics.com\\\/fr\\\/#\\\/schema\\\/person\\\/2a44b94f44dbd4ddf0847f47b1768f1f\"},\"headline\":\"Journ\u00e9e des Maladies Rares 2023 : GenSight Biologics sensibilise \u00e0 la Neuropathie Optique H\u00e9r\u00e9ditaire de Leber (NOHL)\",\"datePublished\":\"2023-02-28T11:30:27+00:00\",\"dateModified\":\"2026-09-24T04:06:58+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/www.gensight-biologics.com\\\/fr\\\/2023\\\/02\\\/28\\\/journee-des-maladies-rares-2023-gensight-biologics-sensibilise-a-la-neuropathie-optique-hereditaire-de-leber-nohl\\\/\"},\"wordCount\":1234,\"articleSection\":[\"Communiqu\u00e9 de presse Financier\"],\"inLanguage\":\"fr-FR\"},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/www.gensight-biologics.com\\\/fr\\\/2023\\\/02\\\/28\\\/journee-des-maladies-rares-2023-gensight-biologics-sensibilise-a-la-neuropathie-optique-hereditaire-de-leber-nohl\\\/\",\"url\":\"https:\\\/\\\/www.gensight-biologics.com\\\/fr\\\/2023\\\/02\\\/28\\\/journee-des-maladies-rares-2023-gensight-biologics-sensibilise-a-la-neuropathie-optique-hereditaire-de-leber-nohl\\\/\",\"name\":\"Journ\u00e9e des Maladies Rares 2023 : GenSight Biologics sensibilise \u00e0 la Neuropathie Optique H\u00e9r\u00e9ditaire de Leber (NOHL) - 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