Literature DB >> 28991104

International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy.

Valerio Carelli1, Michele Carbonelli, Irenaeus F de Coo, Aki Kawasaki, Thomas Klopstock, Wolf A Lagrèze, Chiara La Morgia, Nancy J Newman, Christophe Orssaud, Jan Willem R Pott, Alfredo A Sadun, Judith van Everdingen, Catherine Vignal-Clermont, Marcela Votruba, Patrick Yu-Wai-Man, Piero Barboni.   

Abstract

Leber hereditary optic neuropathy (LHON) is currently estimated as the most frequent mitochondrial disease (1 in 27,000-45,000). Its molecular pathogenesis and natural history is now fairly well understood. LHON also is the first mitochondrial disease for which a treatment has been approved (idebenone-Raxone, Santhera Pharmaceuticals) by the European Medicine Agency, under exceptional circumstances because of the rarity and severity of the disease. However, what remains unclear includes the optimal target population, timing, dose, and frequency of administration of idebenone in LHON due to lack of accepted definitions, criteria, and general guidelines for the clinical management of LHON. To address these issues, a consensus conference with a panel of experts from Europe and North America was held in Milan, Italy, in 2016. The intent was to provide expert consensus statements for the clinical and therapeutic management of LHON based on the currently available evidence. We report the conclusions of this conference, providing the guidelines for clinical and therapeutic management of LHON.

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Year:  2017        PMID: 28991104     DOI: 10.1097/WNO.0000000000000570

Source DB:  PubMed          Journal:  J Neuroophthalmol        ISSN: 1070-8022            Impact factor:   3.042


  42 in total

1.  [LHON-Treatment option despite poor initial visual acuity?]

Authors:  A Rickmann; L Wocker; L-J Damm; C Ivanescu; P Szurman; N Pérez Guerra
Journal:  Ophthalmologe       Date:  2019-10       Impact factor: 1.059

2.  Visual function in chronic Leber's hereditary optic neuropathy during idebenone treatment initiated 5 to 50 years after onset.

Authors:  Berthold Pemp; Karl Kircher; Andreas Reitner
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2019-09-03       Impact factor: 3.117

Review 3.  Generic Substitution of Orphan Drugs for the Treatment of Rare Diseases: Exploring the Potential Challenges.

Authors:  Antonello Di Paolo; Elena Arrigoni
Journal:  Drugs       Date:  2018-03       Impact factor: 9.546

4.  14th EUNOS Congress: PORTO, PORTUGAL, 16-19 JUNE 2019.

Authors: 
Journal:  Neuroophthalmology       Date:  2019-06-07

Review 5.  Pathophysiology of Conversion to Symptomatic Leber Hereditary Optic Neuropathy and Therapeutic Implications: a Review.

Authors:  Alvaro J Mejia-Vergara; Nicolas Seleme; Alfredo A Sadun; Rustum Karanjia
Journal:  Curr Neurol Neurosci Rep       Date:  2020-04-15       Impact factor: 5.081

6.  Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches.

Authors:  Neringa Jurkute; Anna Majander; Richard Bowman; Marcela Votruba; Stephen Abbs; James Acheson; Guy Lenaers; Patrizia Amati-Bonneau; Mariya Moosajee; Gavin Arno; Patrick Yu-Wai-Man
Journal:  Eur J Hum Genet       Date:  2018-08-24       Impact factor: 4.246

7.  Management of ophthalmologic manifestations of mitochondrial diseases.

Authors:  Nancy J Newman; Patrick Yu-Wai-Man; Alfredo A Sadun; Rustum Karanjia; Valerio Carelli
Journal:  Genet Med       Date:  2017-10-26       Impact factor: 8.822

8.  Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.

Authors:  Neringa Jurkute; Priya D Shanmugarajah; Marios Hadjivassiliou; Jenny Higgs; Miodrag Vojcic; Iain Horrocks; Yann Nadjar; Valerie Touitou; Guy Lenaers; Roy Poh; James Acheson; Anthony G Robson; F Lucy Raymond; Mary M Reilly; Patrick Yu-Wai-Man; Anthony T Moore; Andrew R Webster; Gavin Arno
Journal:  Invest Ophthalmol Vis Sci       Date:  2021-05-03       Impact factor: 4.799

9.  Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A ND4 Mutation: Systematic Review and Indirect Comparison.

Authors:  Nancy J Newman; Patrick Yu-Wai-Man; Valerio Carelli; Valerie Biousse; Mark L Moster; Catherine Vignal-Clermont; Robert C Sergott; Thomas Klopstock; Alfredo A Sadun; Jean-François Girmens; Chiara La Morgia; Adam A DeBusk; Neringa Jurkute; Claudia Priglinger; Rustum Karanjia; Constant Josse; Julie Salzmann; François Montestruc; Michel Roux; Magali Taiel; José-Alain Sahel
Journal:  Front Neurol       Date:  2021-05-24       Impact factor: 4.003

Review 10.  Strategies for mitochondrial gene editing.

Authors:  Xingbo Yang; Jiacheng Jiang; Zongyu Li; Jiayi Liang; Yaozu Xiang
Journal:  Comput Struct Biotechnol J       Date:  2021-06-04       Impact factor: 7.271

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