An editorial on LHON therapeutic perspectives (Leber’s Hereditary Optic Neuropathy) from Dr. Lorena Castillo, Head of the Neuro-Ophthalmology Department at ICR, has been published in the December issue of the journal Archivos de la Sociedad Española de Oftalmología.
Editorials in medical journals are published by leading specialists in a specific area, and are aimed at analyzing and synthetizing the scientific evidence on the mentioned area, in this case LHON disease, and give an opinion on common perspectives. Dr. Castillo is a national expert on this medical area and works as a consultant and member of ASANOL’s (Leber’s Optic Nerve Atrophy Association) Scientific Committee, a non-profit association whose aim is to make known, research and report on this low prevalence disease that causes a significant and sudden loss of vision in considerably young patients.
Idebenone, gene therapy and LHON therapeutic perspectives
LHON (Leber’s Hereditary Optic Neuropathy) is a disease that generally causes a sever vision loss in both eyes, and it is the most common hereditary optic neuropathy. Its cause is a mitochondrial mutation (in the mitochondrial DNA inherited only from the mother).
Dr. Castillo’s editorial addresses the different treatment options for the disease, and especially, the use of two therapeutic pathways. The first one is the use of idebenone, a benzoquinone, synthetic analogous to coenzyme Q10 which has a preventive effect on the oxidative action of reactive oxygen species to mitochondria. Idebenone (Raxone®, Santhera Pharmaceuticals) is, nowadays, the only approved treatment for LOHN. Dr. Castillo takes part as principal investigator in the phase-4 clinical trial aiming to assess the efficiency and security in the long run of the use of idebenone in patients affected by LHON.
The second pathway addresses the gene therapy as a possible treatment for the disease. It consists in the introduction of absent functional elements in human genome which is performed on cells and tissues. It is aimed at treating diseases and is no longer the future, but an emerging reality. Currently, from 5 clinical trials being carried out globally on this disease, two of them are already at phase 3. In this sense, Dr. Castillo collaborates with GenSight Biologics, a biotechnology company responsible for the 2 gene therapy trials currently at phase 3, with the aim of making them accessible to Spanish patients, so they can be possible candidates.
Consult Dr. Castillo’s editorial online
Elsevier has published in Science Direct the complete version of Dr. Castillo’s editorial on LHON treatment, in an English version that can be freely accessed until January 19th, 2017.