Advances in therapeutic strategies for Leber’s hereditary optic neuropathy

@article{Karanjia2015AdvancesIT,
  title={Advances in therapeutic strategies for Leber’s hereditary optic neuropathy},
  author={Rustum Karanjia and Alfredo Arrigo Sadun},
  journal={Expert Opinion on Orphan Drugs},
  year={2015},
  volume={3},
  pages={1439 - 1446}
}
Introduction: Leber’s hereditary optic neuropathy (LHON) is a rare mitochondrial disease which preferentially affects the optic nerve. A genetic defect in the mitochondrial DNA encoding complex I of the respiratory chain underlies this genetic disorder. Patients typically present with subacute vision loss in one eye followed by the loss of vision in the second eye approximately 6 weeks later, ultimately leading to blindness. Areas covered: In this review, we discuss failed and active therapies… 
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TLDR
This commentary gives a brief overview on the current status of tested therapeutics and also addresses future developments such as the use of gene therapy that hopefully will provide safe and efficient therapy options for all LHON patients.
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TLDR
This first randomized controlled trial in the mitochondrial disorder, Leber’s hereditary optic neuropathy, provides evidence that patients with discordant visual acuities are the most likely to benefit from idebenone treatment, which is safe and well tolerated.
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TLDR
In the first complete randomized, placebo-controlled, double-blind clinical trial in LHON, 85 unselected patients with LHON ≥14 years of age were randomized to receive 900 mg/day of idebenone or placebo in a 2:1 ratio for 24 weeks, showing a consistent trend in visual acuity end-points.
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TLDR
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TLDR
To ascertain the mitochondrial genetic etiology of the LHON in these families, the nucleotide sequences of the seven mitochondrial genes encoding subunits of respiratory-chain complex I and the mitochondrial cytochrome b gene were determined for representatives of both families and inferred that the Vic2 and Tas2 LHON families are phylogenetically related to each other.
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TLDR
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