Aim: To evaluate the safety and clinical effects of EPI-743 in Friedreich's ataxia patients. EPI-743 is a compound that targets oxidoreductase enzymes essential for redox control of metabolism. 

Methods: We conducted a multicenter trial that evaluated EPI-743 during a 6-month placebo-controlled phase, followed by an 18-month open-label phase. End points included low-contrast visual acuity and the Friedreich's Ataxia Rating Scale. 

Results/conclusion: EPI-743 was demonstrated to be safe and well tolerated. There were no significant improvements in key end points during the placebo phase. However, at 24 months, EPI-743 treatment was associated with a statistically significant improvement in neurological function and disease progression relative to a natural history cohort (p < 0.001).

Double-blind, randomized and controlled trial of EPI-743 in Friedreich's ataxia.

Emerging Mitochondrial Therapeutic Targets in Optic Neuropathies.

Purpose: To measure corneal sensitivity and tear function in neurodegenerative diseases (NDs) and to compare them with age and sex-matched controls.Methods: Twenty patients with Alzheimer's disease (AD), 20 patients with multiple sclerosis (MS), 30 patients with Parkinson's disease (PD), 10 patients with Friedreich's ataxia (FA) and 21 patients with epilepsy (EP) who were recruited from the Kirikkale University Neurology Department during 2012 were included in this prospective study. Five groups of age and sex-matched subjects were selected as controls. Corneal sensitivity was measured using a Cochet–Bonnet esthesiometer. Tear function tests included tear break-up time (TBUT) and Schirmer's 1 tests.Results: Compared to their controls, mean corneal sensitivity was significantly reduced in AD, MS, PD and EP patients (all p < 0.05), mean TBUT level was significantly shorter in patients with AD and MS (all p < 0.05) and mean Schirmer's 1 test score was significantly lower in EP patients (p < 0.05). Wh...

Corneal sensitivity and tear function in neurodegenerative diseases.

Purpose The purpose of this study was to investigate light damage-induced transcript changes within neurosensory retina (NSR) and isolated retinal pigment epithelium (RPE). Similar studies have been conducted previously, but were usually limited to the NSR and only a portion of the transcriptome. Herein most of the transcriptome, not just in the NSR but also in isolated RPE, was queried. Methods Mice were exposed to 10,000 lux cool white fluorescent light for 18 hours and euthanized 4 hours after photic injury. NSR and isolated RPE were collected, and RNA was isolated. DNA microarray hybridization was conducted as described in the Affymetrix GeneChip Expression Analysis Technical Manual. Microarray analysis was performed using probe intensity data derived from the Mouse Gene 1.0 ST Array. For the genes of interest, confirmation of gene expression was done using quantitative real-time PCR. Immunofluorescence assessed protein levels and localization. Results Numerous iron regulatory genes were significantly changed in the light-exposed NSR and RPE. Several of these gene expression changes favored an iron-overloaded state. For example, the transferrin receptor was upregulated in both light-exposed NSR and RPE. Consistent with this, there was stronger transferrin receptor immunoreactivity in the light-exposed retinas. Significant changes in gene expression following light damage were also observed in oxidative stress and complement system genes. Conclusions The concept of a photooxidative stress-induced vicious cycle of increased iron uptake leading to further oxidative stress was introduced.

/pdf/microarray-analysis-of-murine-retinal-light-damage-reveals-5da12pbkif.pdf

Microarray analysis of murine retinal light damage reveals changes in iron regulatory, complement, and antioxidant genes in the neurosensory retina and isolated RPE.

Neuroprotection in glaucoma: Mechanisms beyond intraocular pressure lowering.

To describe ocular abnormalities in patients with Friedreich ataxia (FRDA). Patients diagnosed with FRDA by genetic analysis were invited to participate in a prospective cohort. The patients included underwent an extensive ophthalmologic examination, including low-contrast Sloan letter charts test and retinal nerve fiber layer (RNFL) thickness analysis by optical coherence tomography (OCT). Twenty-three patients agreed to participate. In all, 19 patients (83%) had a visual acuity of at least 0.8 in both eyes. Fundus examination showed diffuse optic nerve pallor in four patients. However, OCT showed a decreased mean peripapillary RNFL thickness in all but three adult cases and one teenager. The RNFL thickness was found to have a positive correlation with visual acuity (P=0.001) and contrast sensitivity (P=0.001) and a negative correlation with time elapsed from diagnosis (P=0.001). OCT and low contrast test sensitivity show that the visual pathway is affected in FRDA. However, in most patients there is no significant visual impairment. In a small proportion of patients visual acuity declines with disease progression. This study provides a better understanding of the ophthalmic features of FRDA.

/pdf/ophthalmic-features-of-friedreich-ataxia-228e4f28ci.pdf

Ophthalmic features of Friedreich ataxia

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Ophthalmic features of Friedreich ataxia