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International Foundation for Optic Nerve Disease

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IFOND projects update 2018

Below is Dr Alfredo Sadun's 2018 Brazil LHON progress report.

Brazil LHON Project

Alfredo A. Sadun, MD, PhD- Principal Investigator

Progress Report: 2018

Since 2001, with funding provided by the International Foundation on Optic Nerve Disease (IFOND), we have conducted yearly field investigations with an international team to a remote area of Brazil. There, we have examined, by a variety of methods, hundreds of patients with Leber’s Hereditary Optic Neuropathy (LHON).

In 2017, we continued to mine the rich data set that has been acquired on our yearly field trips to Colatina, Brazil 2001-2016. In the articles we published this year, we have emphasized 3 areas: 1) electrophysiology. 2) Treatment comparisons. 3) Psychological aspects of devastating vision loss in LHON.

Rustum, Karanjia, MD, PhD, assistant professor at the Univ. of Ottawa in Canada is using customized newly engineered electrophysiology equipment to test Brazilian LHON patients. This requires bringing and leaving new equipment for retinal electrophysiology that had been designed to provide a new methodology to study Leber’s Hereditary Optic Neuropathy (LHON) in the field. The equipment was designed, built and brought down by Dr. Karanjia. This allowed us to obtain LHON and control data on Brazilian patients with and without the disease. Remarkably, this test not only discriminates with 100% sensitivity and specificity between LHON affected and age matched controls, but it can identify LHON carriers who do not have any apparent signs or symptoms of a visual nature. Please note ref. 1 below.

We also continued to analyze our extensive data set consisting of information including annual OCTs, HVFs, color vision, contrast sensitivity, etc. Some of this is already in suitable digital form, and other parts need to be converted. Taken together, this data is being used to generate and test new hypothesis in regards to the pathophysiology, natural history and efficacy of treatments for LHON. For example, we published on a small clinical trial using as treatment EPI-743. This trial has shown only modest results in regards to treatment. Importantly, we found that patients were able to improve on EPI-743 even as much as 5 years after the initial loss of vision. This large window for therapy will be critical for future studies.

We have now published over 30 papers that, in the aggregate, completely redefine the natural history and treatment of LHON. Our group has proposed new hypotheses regarding the fundamental pathophysiology of this and related diseases. These are being confirmed by other groups opening the way new avenues of treatment.

Our work has demonstrated that it is not so much the bioenergetics, or lack of ATP that is the problem that leads to blindness. Rather, it is the blockage of electron transport that leads to the overproduction of reactive oxygen species that signals the cells to die. There is a propagated wave of cell death and optic atrophy that can be mathematically modeled to be a function of the axon size.

These and other insights also allow for the development of new treatments such as we are testing in the three clinical trials we are conducting. Two are with Gensight (viral vector genetic engineering) and one with Stealth Pharmaceuticals (controlling the negative effects on the cardiolipin of mitochondria). New clinical trials are in discussion with Spark therapeutics (Philadelphia) and others.

Once again, we thank the many physicians, scientists and staff who volunteered their time and effort and, especially IFOND that provided critical funding.

Submitted with thanks,


Alfredo A. Sadun, MD, PhD

Thornton Endowed Chair

Doheny Eye Center and

Vice-Chair of Ophthalmology, UCLA

1.Karanjia R, Berezovsky A, Sacai PY, Cavascan NN, Liu HY, Nazarali S, Moraes-Filho MN, Anderson K, Tran JS, Watanabe SE, Moraes MN, Sadun F, DeNegri AM, Barboni P, do Val Ferreira Ramos C, La Morgia C, Carelli V, Belfort R Jr, Coupland SG, Salomao SR, Sadun AA. The Photopic Negative Response: An Objective Measure of Retinal Ganglion Cell Function in Patients With Leber's Hereditary Optic Neuropathy. Invest Ophthalmol Vis Sci. 2017 May 1;58(6):BIO300-BIO306. doi: 10.1167/iovs.17-21773.

2.Carelli V, Carbonelli M, de Coo IF, Kawasaki A, Klopstock T, Lagrèze WA, La Morgia C, Newman NJ, Orssaud C, Pott JWR, Sadun AA, van Everdingen J, Vignal-Clermont C, Votruba M, Yu-Wai-Man P, Barboni P. International Consensus Statement on the Clinical and Therapeutic Management of Leber's Hereditary Optic Neuropathy. J Neuroophthalmol. 2017 Oct 3. doi: 10.1097/WNO.0000000000000570. [Epub ahead of print]

3. Garcia GA, Khoshnevis M, Gale J, Frousiakis SE, Hwang TJ, Poincenot L, Karanjia R, Baron D, Sadun AA. Profound vision loss impairs psychological well-being in young and middle-aged individuals. Clin Ophthalmol. 2017 Feb 22;11:417-427. doi: 10.2147/OPTH.S113414. eCollection 2017.

4. A Gale J, Khoshnevis M, Frousiakis SE, Karanjia R, Poincenot L, Sadun AA, Baron DA. n International Study of Emotional Response to Bilateral Vision Loss Using a Novel Graphical Online Assessment Tool. Psychosomatics. 2017 Jan - Feb;58(1):38-45.

5. Hwang TJ, Karanjia R, Moraes-Filho MN, Gale J, Tran JS, Chu ER, Salomao SR, Berezovsky A, Belfort R Jr, Moraes MN, Sadun F, DeNegri AM, La Morgia C, Barboni P, Ramos CDVF, Chicani CF, Quiros PA, Carelli V, Sadun AA. Natural History of Conversion of Leber's Hereditary Optic Neuropathy: A Prospective Case Series. Ophthalmology. 2017 Jun;124(6):843-850. doi: 10.1016/j.ophtha.2017.01.002. Epub 2017 Feb 10.

6. Karanjia R, Chahal J, Ammar M, Sadun AA. Treatment of Leber's Hereditary Optic Neuropathy. Curr Pharm Des. 2017;23(4):624-628. doi: 10.2174/1381612823666170125164856.

Link to Papers IFOND helped sponsor

Here find links to published peer reviewed papers acknowledging IFOND's help. This research helped stimulate a cascade of broad research on mitochondrial and optic nerve disease.

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